List of variants in gene HPD studied for inborn disorder of amino acid metabolism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 300

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002150.3(HPD):c.97A>G (p.Thr33Ala)	rs1154510	0.88222
NM_001171993.2(HPD):c.-115+47G>A	rs3741591	0.31802
NM_002150.3(HPD):c.94-6A>T	rs2707072	0.12768
NM_002150.3(HPD):c.97= (p.Thr33=)	rs1154510	0.11778
NM_002150.3(HPD):c.338G>A (p.Arg113Gln)	rs11833399	0.02263
NM_002150.3(HPD):c.1018G>T (p.Val340Leu)	rs36023382	0.01235
NM_002150.3(HPD):c.345C>T (p.Ala115=)	rs59741465	0.00670
NM_002150.3(HPD):c.15T>G (p.Ser5Arg)	rs35849100	0.00625
NM_002150.3(HPD):c.414G>A (p.Thr138=)	rs140788110	0.00479
NM_002150.3(HPD):c.342C>T (p.Gly114=)	rs61742674	0.00253
NM_002150.3(HPD):c.813C>T (p.Thr271=)	rs144416002	0.00209
NM_002150.3(HPD):c.499G>A (p.Asp167Asn)	rs74820788	0.00201
NM_001171993.2(HPD):c.-115+52A>G	rs199549271	0.00192
NM_002150.3(HPD):c.498G>A (p.Met166Ile)	rs149081239	0.00141
NM_002150.3(HPD):c.1038C>T (p.Leu346=)	rs145947530	0.00064
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)	rs137852868	0.00051
NM_002150.3(HPD):c.898C>A (p.Arg300=)	rs149281612	0.00051
NM_002150.3(HPD):c.895C>T (p.Leu299=)	rs144544907	0.00041
NM_002150.3(HPD):c.954+14A>C	rs200866898	0.00039
NM_002150.3(HPD):c.93+20G>A	rs202081529	0.00021
NM_002150.3(HPD):c.759+8C>T	rs574773747	0.00018
NM_002150.3(HPD):c.331C>T (p.Arg111Trp)	rs117839625	0.00014
NM_002150.3(HPD):c.941T>C (p.Ile314Thr)	rs376100037	0.00010
NM_002150.3(HPD):c.1071+10G>A	rs191293267	0.00009
NM_002150.3(HPD):c.972G>A (p.Val324=)	rs200240490	0.00009
NM_002150.3(HPD):c.356G>A (p.Arg119Gln)	rs149180825	0.00008
NM_002150.3(HPD):c.415-4G>A	rs534922913	0.00007
NM_002150.3(HPD):c.815A>G (p.Glu272Gly)	rs375083142	0.00007
NM_002150.3(HPD):c.760-7C>T	rs748133768	0.00006
NM_002150.3(HPD):c.836G>A (p.Arg279His)	rs140144597	0.00005
NM_002150.3(HPD):c.914C>T (p.Thr305Met)	rs200010805	0.00005
NM_002150.3(HPD):c.4-19del	rs562067458	0.00004
NM_002150.3(HPD):c.531T>C (p.Ser177=)	rs113922752	0.00004
NM_002150.3(HPD):c.544G>A (p.Asp182Asn)	rs750446552	0.00004
NM_002150.3(HPD):c.5C>T (p.Thr2Met)	rs774495352	0.00004
NM_002150.3(HPD):c.61T>C (p.Ser21Pro)	rs776782918	0.00004
NM_002150.3(HPD):c.634G>A (p.Val212Met)	rs780501941	0.00004
NM_002150.3(HPD):c.882G>A (p.Thr294=)	rs200038783	0.00004
NM_002150.3(HPD):c.915G>A (p.Thr305=)	rs751753975	0.00004
NM_002150.3(HPD):c.966C>A (p.Ile322=)	rs908075187	0.00004
NM_002150.3(HPD):c.1108G>A (p.Ala370Thr)	rs142321451	0.00003
NM_002150.3(HPD):c.157G>A (p.Gly53Ser)	rs758064577	0.00002
NM_002150.3(HPD):c.778G>A (p.Gly260Arg)	rs755816788	0.00002
NM_002150.3(HPD):c.93+9C>T	rs542121054	0.00002
NM_002150.3(HPD):c.1106A>G (p.Lys369Arg)	rs777094600	0.00001
NM_002150.3(HPD):c.1159A>G (p.Asn387Asp)	rs754985728	0.00001
NM_002150.3(HPD):c.156C>T (p.Thr52=)	rs776140021	0.00001
NM_002150.3(HPD):c.43C>T (p.Arg15Ter)	rs775747384	0.00001
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys)	rs137852865	0.00001
NM_002150.3(HPD):c.574G>A (p.Glu192Lys)	rs1877675977	0.00001
NM_002150.3(HPD):c.580G>T (p.Val194Leu)	rs570445297	0.00001
NM_002150.3(HPD):c.722A>G (p.Asn241Ser)	rs1276998235	0.00001
NM_002150.3(HPD):c.75G>A (p.Trp25Ter)	rs367674632	0.00001
NM_002150.3(HPD):c.765T>C (p.Tyr255=)	rs767720774	0.00001
NM_002150.3(HPD):c.832-11C>T	rs1877487606	0.00001
NM_002150.3(HPD):c.954+5G>A	rs1252680307	0.00001
NC_000012.11:g.(122295339_122295710)_(122295726_122296592)del
NC_000012.11:g.(?_122277634)_(122287716_?)del
NC_000012.11:g.(?_122281596)_(122281758_?)del
NC_000012.11:g.(?_122284748)_(122296729_?)del
NC_000012.11:g.(?_122284839)_(122288809_?)del
NC_000012.11:g.(?_122286885)_(122287716_?)del
NC_000012.11:g.(?_122292589)_(122296729_?)del
NC_000012.11:g.(?_122294469)_(122296729_?)del
NC_000012.11:g.(?_122296573)_(122296729_?)del
NC_000012.12:g.(?_121839708)_(121840068_?)del
NC_000012.12:g.(?_121843690)_(121847234_?)del
NC_000012.12:g.(?_121846842)_(121849810_?)del
NM_002150.3(HPD):c.1005C>A (p.Ile335=)
NM_002150.3(HPD):c.1016C>G (p.Pro339Arg)	rs1877352949
NM_002150.3(HPD):c.1017G>A (p.Pro339=)
NM_002150.3(HPD):c.1023G>A (p.Gln341=)
NM_002150.3(HPD):c.1026C>T (p.Asp342=)
NM_002150.3(HPD):c.1029G>A (p.Arg343=)
NM_002150.3(HPD):c.1032C>A (p.Pro344=)
NM_002150.3(HPD):c.1032C>T (p.Pro344=)
NM_002150.3(HPD):c.104T>C (p.Phe35Ser)	rs1592923946
NM_002150.3(HPD):c.1061A>G (p.His354Arg)	rs1877351328
NM_002150.3(HPD):c.106T>C (p.Tyr36His)
NM_002150.3(HPD):c.1071+12C>T
NM_002150.3(HPD):c.1071+13C>T
NM_002150.3(HPD):c.1071+15C>T
NM_002150.3(HPD):c.1071+15del
NM_002150.3(HPD):c.1072-16C>G
NM_002150.3(HPD):c.1072-18CT[2]
NM_002150.3(HPD):c.1072-18_1072-16del
NM_002150.3(HPD):c.1072-4A>G
NM_002150.3(HPD):c.1072-7G>T
NM_002150.3(HPD):c.1077T>C (p.Phe359=)
NM_002150.3(HPD):c.1083C>G (p.Ala361=)
NM_002150.3(HPD):c.1086C>A (p.Gly362=)
NM_002150.3(HPD):c.1092C>A (p.Phe364Leu)
NM_002150.3(HPD):c.1097C>A (p.Ser366Ter)	rs369037617
NM_002150.3(HPD):c.1098A>G (p.Ser366=)
NM_002150.3(HPD):c.109T>C (p.Cys37Arg)	rs1246785384
NM_002150.3(HPD):c.1116G>A (p.Glu372=)	rs2137605580
NM_002150.3(HPD):c.1120G>A (p.Glu374Lys)	rs1020099831
NM_002150.3(HPD):c.1121A>T (p.Glu374Val)	rs1877344435
NM_002150.3(HPD):c.1133G>C (p.Arg378Pro)	rs560715209
NM_002150.3(HPD):c.1134G>A (p.Arg378=)
NM_002150.3(HPD):c.1151del (p.Met384fs)	rs1555339247
NM_002150.3(HPD):c.1155G>A (p.Glu385=)
NM_002150.3(HPD):c.1164G>A (p.Gly388=)
NM_002150.3(HPD):c.1165G>C (p.Val389Leu)	rs1404803313
NM_002150.3(HPD):c.1173C>G (p.Pro391=)
NM_002150.3(HPD):c.1176C>T (p.Gly392=)
NM_002150.3(HPD):c.123C>T (p.Gly41=)
NM_002150.3(HPD):c.126T>C (p.Phe42=)
NM_002150.3(HPD):c.141C>T (p.Tyr47=)
NM_002150.3(HPD):c.142del (p.Arg48fs)
NM_002150.3(HPD):c.146del (p.Gly49fs)
NM_002150.3(HPD):c.147C>A (p.Gly49=)
NM_002150.3(HPD):c.147C>T (p.Gly49=)
NM_002150.3(HPD):c.148del (p.Leu50fs)
NM_002150.3(HPD):c.158dup (p.Ser54fs)	rs895823217
NM_002150.3(HPD):c.168G>A (p.Glu56=)
NM_002150.3(HPD):c.183A>G (p.Val61=)
NM_002150.3(HPD):c.184dup (p.Ile62fs)
NM_002150.3(HPD):c.198+12C>T
NM_002150.3(HPD):c.3+11T>C
NM_002150.3(HPD):c.3+11del
NM_002150.3(HPD):c.3+14C>T
NM_002150.3(HPD):c.3+16A>G
NM_002150.3(HPD):c.3+20C>A
NM_002150.3(HPD):c.30+10C>A
NM_002150.3(HPD):c.30+10C>T
NM_002150.3(HPD):c.30+11G>A
NM_002150.3(HPD):c.30+15T>G
NM_002150.3(HPD):c.30+7A>C
NM_002150.3(HPD):c.30+9G>A
NM_002150.3(HPD):c.31-12C>T	rs1566574884
NM_002150.3(HPD):c.31-14C>T
NM_002150.3(HPD):c.31-16_31-15del
NM_002150.3(HPD):c.31-1G>A
NM_002150.3(HPD):c.31-20C>T
NM_002150.3(HPD):c.31-7_31-5del
NM_002150.3(HPD):c.325-12T>A
NM_002150.3(HPD):c.325-15C>T
NM_002150.3(HPD):c.325-19G>A
NM_002150.3(HPD):c.325-19G>C	rs200528285
NM_002150.3(HPD):c.325-20C>T
NM_002150.3(HPD):c.325-2A>G
NM_002150.3(HPD):c.325-4G>T
NM_002150.3(HPD):c.325-8_325-6del
NM_002150.3(HPD):c.33T>C (p.Pro11=)
NM_002150.3(HPD):c.33T>G (p.Pro11=)
NM_002150.3(HPD):c.342C>A (p.Gly114=)
NM_002150.3(HPD):c.355C>A (p.Arg119=)	rs745739337
NM_002150.3(HPD):c.356_358del (p.Arg119_Glu120delinsGln)	rs1877932887
NM_002150.3(HPD):c.36G>A (p.Glu12=)
NM_002150.3(HPD):c.381G>A (p.Lys127=)
NM_002150.3(HPD):c.398T>C (p.Phe133Ser)
NM_002150.3(HPD):c.4-17C>T
NM_002150.3(HPD):c.4-2A>G
NM_002150.3(HPD):c.4-6C>T
NM_002150.3(HPD):c.413C>T (p.Thr138Met)
NM_002150.3(HPD):c.414+11T>C
NM_002150.3(HPD):c.414+12T>C
NM_002150.3(HPD):c.414+14G>A
NM_002150.3(HPD):c.414+18C>A
NM_002150.3(HPD):c.414+18C>G
NM_002150.3(HPD):c.414+1G>C
NM_002150.3(HPD):c.415-19G>C
NM_002150.3(HPD):c.415-5C>G
NM_002150.3(HPD):c.415-5C>T
NM_002150.3(HPD):c.415-9C>T
NM_002150.3(HPD):c.415T>A (p.Tyr139Asn)	rs1877705055
NM_002150.3(HPD):c.420G>A (p.Gly140=)
NM_002150.3(HPD):c.42C>T (p.Gly14=)
NM_002150.3(HPD):c.442dup (p.Glu148fs)
NM_002150.3(HPD):c.44G>C (p.Arg15Pro)
NM_002150.3(HPD):c.459C>T (p.Ile153=)
NM_002150.3(HPD):c.460G>C (p.Gly154Arg)
NM_002150.3(HPD):c.463del (p.Gln155fs)	rs2137619413
NM_002150.3(HPD):c.471G>A (p.Leu157=)
NM_002150.3(HPD):c.474T>G (p.Pro158=)
NM_002150.3(HPD):c.485C>T (p.Ala162Val)	rs1566570874
NM_002150.3(HPD):c.492G>A (p.Ala164=)
NM_002150.3(HPD):c.518+12T>C
NM_002150.3(HPD):c.518+13C>T
NM_002150.3(HPD):c.518+14A>G
NM_002150.3(HPD):c.518+17G>T
NM_002150.3(HPD):c.518+3G>A	rs1877698848
NM_002150.3(HPD):c.519-16C>T
NM_002150.3(HPD):c.519-20_519-19dup
NM_002150.3(HPD):c.519-8C>T
NM_002150.3(HPD):c.537G>A (p.Glu179=)	rs2137618516
NM_002150.3(HPD):c.543C>A (p.Ile181=)
NM_002150.3(HPD):c.543C>T (p.Ile181=)	rs756242095
NM_002150.3(HPD):c.561C>G (p.Asn187Lys)	rs1438994844
NM_002150.3(HPD):c.573G>A (p.Gln191=)
NM_002150.3(HPD):c.585C>T (p.Ser195=)
NM_002150.3(HPD):c.588C>T (p.Ala196=)
NM_002150.3(HPD):c.591C>T (p.Ser197=)
NM_002150.3(HPD):c.596+12del
NM_002150.3(HPD):c.596+18T>C
NM_002150.3(HPD):c.596+7C>A
NM_002150.3(HPD):c.597-10C>T
NM_002150.3(HPD):c.597-13G>A
NM_002150.3(HPD):c.597-14C>T
NM_002150.3(HPD):c.597-16A>G
NM_002150.3(HPD):c.597-18C>T
NM_002150.3(HPD):c.597-1G>A
NM_002150.3(HPD):c.597-1G>C
NM_002150.3(HPD):c.597-20T>C
NM_002150.3(HPD):c.597-7C>T
NM_002150.3(HPD):c.600C>G (p.Tyr200Ter)	rs137852867
NM_002150.3(HPD):c.60C>T (p.His20=)
NM_002150.3(HPD):c.613C>T (p.Gln205Ter)
NM_002150.3(HPD):c.618C>T (p.Phe206=)
NM_002150.3(HPD):c.624C>T (p.Arg208=)
NM_002150.3(HPD):c.633C>G (p.Ser211=)
NM_002150.3(HPD):c.633C>T (p.Ser211=)
NM_002150.3(HPD):c.645G>A (p.Thr215=)
NM_002150.3(HPD):c.645G>C (p.Thr215=)
NM_002150.3(HPD):c.645G>T (p.Thr215=)
NM_002150.3(HPD):c.657G>A (p.Thr219=)
NM_002150.3(HPD):c.663T>C (p.Tyr221=)
NM_002150.3(HPD):c.666C>T (p.Ser222=)
NM_002150.3(HPD):c.673C>T (p.Arg225Ter)
NM_002150.3(HPD):c.684G>A (p.Val228=)
NM_002150.3(HPD):c.688G>A (p.Ala230Thr)	rs2137616170
NM_002150.3(HPD):c.699A>G (p.Glu233=)
NM_002150.3(HPD):c.6G>A (p.Thr2=)
NM_002150.3(HPD):c.715_724del (p.Pro239fs)
NM_002150.3(HPD):c.717del (p.Ile240fs)
NM_002150.3(HPD):c.732G>A (p.Ala244=)
NM_002150.3(HPD):c.732G>T (p.Ala244=)
NM_002150.3(HPD):c.735T>A (p.Pro245=)
NM_002150.3(HPD):c.759+12C>T
NM_002150.3(HPD):c.759+17C>T
NM_002150.3(HPD):c.759+19G>C
NM_002150.3(HPD):c.759+19G>T
NM_002150.3(HPD):c.759+9G>A
NM_002150.3(HPD):c.759+9G>C
NM_002150.3(HPD):c.760-11C>G
NM_002150.3(HPD):c.760-18_760-16del
NM_002150.3(HPD):c.760-19_760-17del
NM_002150.3(HPD):c.774T>G (p.Tyr258Ter)	rs137852866
NM_002150.3(HPD):c.777C>T (p.Asn259=)
NM_002150.3(HPD):c.780G>A (p.Gly260=)
NM_002150.3(HPD):c.783C>T (p.Gly261=)
NM_002150.3(HPD):c.789G>T (p.Gly263=)
NM_002150.3(HPD):c.798C>T (p.His266=)
NM_002150.3(HPD):c.802G>A (p.Ala268Thr)
NM_002150.3(HPD):c.831+11C>G
NM_002150.3(HPD):c.831+11C>T
NM_002150.3(HPD):c.831+12C>T
NM_002150.3(HPD):c.831+16C>A
NM_002150.3(HPD):c.831+7A>T
NM_002150.3(HPD):c.831+9C>A
NM_002150.3(HPD):c.831+9C>T
NM_002150.3(HPD):c.832-12G>A
NM_002150.3(HPD):c.832-15T>C
NM_002150.3(HPD):c.832-16C>T
NM_002150.3(HPD):c.835C>G (p.Arg279Gly)
NM_002150.3(HPD):c.842T>A (p.Leu281Ter)
NM_002150.3(HPD):c.84C>T (p.Asn28=)	rs1441672343
NM_002150.3(HPD):c.850_853del (p.Arg284fs)
NM_002150.3(HPD):c.852A>G (p.Arg284=)
NM_002150.3(HPD):c.852_853del (p.Gly285fs)	rs142252243
NM_002150.3(HPD):c.852_853dup (p.Gly285fs)
NM_002150.3(HPD):c.85G>A (p.Ala29Thr)
NM_002150.3(HPD):c.865_866del (p.Leu289fs)
NM_002150.3(HPD):c.867A>G (p.Leu289=)
NM_002150.3(HPD):c.87C>T (p.Ala29=)
NM_002150.3(HPD):c.882G>T (p.Thr294=)
NM_002150.3(HPD):c.898C>T (p.Arg300Trp)	rs149281612
NM_002150.3(HPD):c.899G>A (p.Arg300Gln)
NM_002150.3(HPD):c.906G>A (p.Lys302=)
NM_002150.3(HPD):c.90G>A (p.Lys30=)
NM_002150.3(HPD):c.91C>T (p.Gln31Ter)
NM_002150.3(HPD):c.92A>G (p.Gln31Arg)	rs1878057534
NM_002150.3(HPD):c.93+10G>A
NM_002150.3(HPD):c.93+16A>G
NM_002150.3(HPD):c.93+1G>A
NM_002150.3(HPD):c.93+2T>C
NM_002150.3(HPD):c.93+3A>G
NM_002150.3(HPD):c.94-13C>T
NM_002150.3(HPD):c.94-9G>A
NM_002150.3(HPD):c.942T>C (p.Ile314=)
NM_002150.3(HPD):c.945T>C (p.Asp315=)
NM_002150.3(HPD):c.949C>T (p.Leu317=)
NM_002150.3(HPD):c.954+17A>T
NM_002150.3(HPD):c.954+20C>T
NM_002150.3(HPD):c.954+9del
NM_002150.3(HPD):c.955-11C>T
NM_002150.3(HPD):c.955-14del
NM_002150.3(HPD):c.955-15_955-14del
NM_002150.3(HPD):c.955-19C>A
NM_002150.3(HPD):c.955-4C>T
NM_002150.3(HPD):c.955-6G>T
NM_002150.3(HPD):c.955-7C>G	rs554245277
NM_002150.3(HPD):c.955-7C>T
NM_002150.3(HPD):c.957G>A (p.Glu319=)
NM_002150.3(HPD):c.978C>T (p.Tyr326=)	rs781659195
NM_002150.3(HPD):c.987A>G (p.Lys329=)
NM_002150.3(HPD):c.993C>T (p.Tyr331=)
NM_002150.3(HPD):c.99G>A (p.Thr33=)
NM_002150.3(HPD):c.9T>C (p.Thr3=)

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