List of variants in gene IHH studied for not provided

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: 225

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HGVS	dbSNP	gnomAD frequency
NM_002181.4(IHH):c.578-235G>A	rs427587	0.98975
NM_002181.4(IHH):c.1128T>C (p.Thr376=)	rs394452	0.85910
NM_002181.4(IHH):c.577+81dup	rs34694069	0.58735
NM_002181.4(IHH):c.753T>C (p.Pro251=)	rs3731881	0.58582
NM_002181.4(IHH):c.600G>A (p.Thr200=)	rs3731878	0.10242
NM_002181.4(IHH):c.577+99G>T	rs114758192	0.06047
NM_002181.4(IHH):c.316-226T>C	rs59423734	0.03780
NM_002181.4(IHH):c.755A>G (p.His252Arg)	rs76479554	0.02052
NM_002181.4(IHH):c.969C>T (p.His323=)	rs76578869	0.01963
NM_002181.4(IHH):c.-251C>A	rs541027099	0.01373
NM_002181.4(IHH):c.819C>T (p.Pro273=)	rs61747697	0.00915
NM_002181.4(IHH):c.-58C>T	rs186760637	0.00781
NM_002181.4(IHH):c.-81C>A	rs528187901	0.00499
NM_002181.4(IHH):c.315+8C>T	rs186249490	0.00278
NM_002181.4(IHH):c.*25G>T	rs76709099	0.00219
NM_002181.4(IHH):c.*83A>T	rs538403599	0.00219
NM_002181.4(IHH):c.873G>A (p.Arg291=)	rs149554120	0.00182
NM_002181.4(IHH):c.1051G>A (p.Val351Met)	rs143959492	0.00174
NM_002181.4(IHH):c.618C>T (p.Ala206=)	rs3731879	0.00163
NM_002181.4(IHH):c.858G>A (p.Pro286=)	rs146055831	0.00083
NM_002181.4(IHH):c.857C>T (p.Pro286Leu)	rs140093604	0.00080
NM_002181.4(IHH):c.1169G>A (p.Arg390His)	rs150661368	0.00054
NM_002181.4(IHH):c.228G>A (p.Glu76=)	rs150747743	0.00048
NM_002181.4(IHH):c.229C>A (p.Arg77Ser)	rs142036701	0.00048
NM_002181.4(IHH):c.647C>T (p.Ala216Val)	rs142245478	0.00018
NM_002181.4(IHH):c.650G>A (p.Arg217His)	rs145192358	0.00016
NM_002181.4(IHH):c.1130C>T (p.Pro377Leu)	rs532767918	0.00015
NM_002181.4(IHH):c.207C>A (p.Gly69=)	rs775613506	0.00013
NM_002181.4(IHH):c.872G>A (p.Arg291Gln)	rs370408334	0.00013
NM_002181.4(IHH):c.577+20C>T	rs540689045	0.00012
NM_002181.4(IHH):c.702G>A (p.Glu234=)	rs201051352	0.00012
NM_002181.4(IHH):c.1222G>A (p.Gly408Arg)	rs200216644	0.00008
NM_002181.4(IHH):c.*423G>A	rs956439051	0.00007
NM_002181.4(IHH):c.1221C>T (p.Ser407=)	rs774963881	0.00007
NM_002181.4(IHH):c.724G>A (p.Asp242Asn)	rs771174829	0.00006
NM_002181.4(IHH):c.836C>T (p.Thr279Met)	rs776499803	0.00006
NM_002181.4(IHH):c.693C>G (p.Ala231=)	rs772887242	0.00005
NM_002181.4(IHH):c.1046C>T (p.Ala349Val)	rs777059543	0.00004
NM_002181.4(IHH):c.1168C>T (p.Arg390Cys)	rs774000427	0.00004
NM_002181.4(IHH):c.1194G>C (p.Glu398Asp)	rs748831066	0.00004
NM_002181.4(IHH):c.58C>G (p.Leu20Val)	rs1483875270	0.00004
NM_002181.4(IHH):c.666C>T (p.Ala222=)	rs374289916	0.00004
NM_002181.4(IHH):c.747C>T (p.Arg249=)	rs375254373	0.00004
NM_002181.4(IHH):c.987C>T (p.Tyr329=)	rs202042901	0.00004
NM_002181.4(IHH):c.992C>T (p.Pro331Leu)	rs367575081	0.00004
NM_002181.4(IHH):c.143C>T (p.Ala48Val)	rs752362743	0.00003
NM_002181.4(IHH):c.631C>T (p.Arg211Cys)	rs3731880	0.00003
NM_002181.4(IHH):c.649C>T (p.Arg217Cys)	rs1244499290	0.00003
NM_002181.4(IHH):c.925G>A (p.Val309Met)	rs759546196	0.00003
NM_002181.4(IHH):c.936G>T (p.Leu312=)	rs375127107	0.00003
NM_002181.4(IHH):c.948C>T (p.Arg316=)	rs781629708	0.00003
NM_002181.4(IHH):c.1045G>A (p.Ala349Thr)	rs557425123	0.00002
NM_002181.4(IHH):c.1094G>A (p.Arg365Lys)	rs778358400	0.00002
NM_002181.4(IHH):c.540C>T (p.Tyr180=)	rs768257762	0.00002
NM_002181.4(IHH):c.577+3G>A	rs780845880	0.00002
NM_002181.4(IHH):c.585G>A (p.Ser195=)	rs745480431	0.00002
NM_002181.4(IHH):c.672G>C (p.Arg224Ser)	rs369651063	0.00002
NM_002181.4(IHH):c.704A>C (p.Asp235Ala)	rs774042639	0.00002
NM_002181.4(IHH):c.802C>T (p.Arg268Cys)	rs779327335	0.00002
NM_002181.4(IHH):c.946C>T (p.Arg316Cys)	rs771622789	0.00002
NM_002181.4(IHH):c.947G>A (p.Arg316His)	rs745408084	0.00002
NM_002181.4(IHH):c.947G>C (p.Arg316Pro)	rs745408084	0.00002
NM_002181.4(IHH):c.1012C>G (p.Leu338Val)	rs1948821233	0.00001
NM_002181.4(IHH):c.11C>A (p.Ala4Asp)	rs1233903791	0.00001
NM_002181.4(IHH):c.554A>G (p.His185Arg)	rs1423023362	0.00001
NM_002181.4(IHH):c.577+19G>A	rs1308695166	0.00001
NM_002181.4(IHH):c.603C>T (p.Gly201=)	rs756257071	0.00001
NM_002181.4(IHH):c.667G>A (p.Val223Met)	rs778251745	0.00001
NM_002181.4(IHH):c.683G>A (p.Arg228His)	rs753334217	0.00001
NM_002181.4(IHH):c.717C>T (p.Thr239=)	rs533532683	0.00001
NM_002181.4(IHH):c.809C>T (p.Ala270Val)	rs749777278	0.00001
NM_002181.4(IHH):c.*175C>G	rs3099
NM_002181.4(IHH):c.-5del
NM_002181.4(IHH):c.101dup (p.Ser36fs)
NM_002181.4(IHH):c.1038C>T (p.Ser346=)
NM_002181.4(IHH):c.1039T>C (p.Cys347Arg)
NM_002181.4(IHH):c.104G>A (p.Gly35Asp)
NM_002181.4(IHH):c.105C>T (p.Gly35=)
NM_002181.4(IHH):c.1080C>T (p.Ala360=)
NM_002181.4(IHH):c.1081T>C (p.Phe361Leu)
NM_002181.4(IHH):c.1091del (p.Leu364fs)	rs2106306966
NM_002181.4(IHH):c.1098C>G (p.Leu366=)
NM_002181.4(IHH):c.1118G>A (p.Gly373Asp)
NM_002181.4(IHH):c.1128= (p.Thr376=)
NM_002181.4(IHH):c.1131G>A (p.Pro377=)
NM_002181.4(IHH):c.1133G>A (p.Gly378Glu)
NM_002181.4(IHH):c.1139G>A (p.Gly380Asp)
NM_002181.4(IHH):c.1151A>G (p.Tyr384Cys)	rs2106306909
NM_002181.4(IHH):c.1169G>T (p.Arg390Leu)
NM_002181.4(IHH):c.1182C>T (p.Leu394=)
NM_002181.4(IHH):c.1217T>A (p.Met406Lys)
NM_002181.4(IHH):c.121C>T (p.Pro41Ser)
NM_002181.4(IHH):c.1226C>A (p.Ala409Glu)
NM_002181.4(IHH):c.134T>G (p.Val45Gly)
NM_002181.4(IHH):c.160C>T (p.Pro54Ser)	rs2106310598
NM_002181.4(IHH):c.164A>G (p.Asn55Ser)
NM_002181.4(IHH):c.172G>A (p.Glu58Lys)
NM_002181.4(IHH):c.172G>T (p.Glu58Ter)	rs2106310580
NM_002181.4(IHH):c.200A>G (p.Tyr67Cys)
NM_002181.4(IHH):c.20G>A (p.Arg7Gln)
NM_002181.4(IHH):c.213C>T (p.Ile71=)
NM_002181.4(IHH):c.217del (p.Arg73fs)
NM_002181.4(IHH):c.227A>C (p.Glu76Ala)	rs576284122
NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser)	rs886043368
NM_002181.4(IHH):c.24C>T (p.Pro8=)
NM_002181.4(IHH):c.250A>G (p.Asn84Asp)	rs2106310482
NM_002181.4(IHH):c.271T>C (p.Phe91Leu)	rs2106310472
NM_002181.4(IHH):c.274A>C (p.Lys92Gln)
NM_002181.4(IHH):c.280G>A (p.Glu94Lys)
NM_002181.4(IHH):c.280GAG[1] (p.Glu95del)	rs1948868228
NM_002181.4(IHH):c.281A>G (p.Glu94Gly)
NM_002181.4(IHH):c.283G>A (p.Glu95Lys)	rs121917852
NM_002181.4(IHH):c.286_295dup (p.Ala99fs)
NM_002181.4(IHH):c.298G>A (p.Asp100Asn)	rs121917855
NM_002181.4(IHH):c.298G>C (p.Asp100His)
NM_002181.4(IHH):c.2T>A (p.Met1Lys)	rs1948871509
NM_002181.4(IHH):c.2T>C (p.Met1Thr)
NM_002181.4(IHH):c.2T>G (p.Met1Arg)
NM_002181.4(IHH):c.301C>A (p.Arg101Ser)	rs1379301732
NM_002181.4(IHH):c.301C>G (p.Arg101Gly)	rs1379301732
NM_002181.4(IHH):c.308T>G (p.Met103Arg)	rs1948867946
NM_002181.4(IHH):c.314A>G (p.Gln105Arg)
NM_002181.4(IHH):c.315+17C>G
NM_002181.4(IHH):c.315+17C>T
NM_002181.4(IHH):c.315+1_315+3del
NM_002181.4(IHH):c.316-153G>T	rs72967954
NM_002181.4(IHH):c.316-1G>A	rs2106308616
NM_002181.4(IHH):c.31C>A (p.His11Asn)
NM_002181.4(IHH):c.327C>G (p.Asp109Glu)
NM_002181.4(IHH):c.328C>A (p.Arg110Ser)
NM_002181.4(IHH):c.332T>C (p.Leu111Pro)	rs2106308596
NM_002181.4(IHH):c.349T>C (p.Ser117Pro)
NM_002181.4(IHH):c.351G>T (p.Ser117=)	rs1948842896
NM_002181.4(IHH):c.374_387del (p.Val125fs)	rs2106308536
NM_002181.4(IHH):c.37T>C (p.Cys13Arg)
NM_002181.4(IHH):c.383G>A (p.Arg128Gln)	rs267606873
NM_002181.4(IHH):c.391G>A (p.Glu131Lys)	rs121917853
NM_002181.4(IHH):c.399G>A (p.Trp133Ter)
NM_002181.4(IHH):c.402C>G (p.Asp134Glu)
NM_002181.4(IHH):c.408C>T (p.Asp136=)
NM_002181.4(IHH):c.409_417del (p.Gly137_His139del)
NM_002181.4(IHH):c.419C>T (p.Ser140Leu)	rs2106308510
NM_002181.4(IHH):c.434del (p.His145fs)
NM_002181.4(IHH):c.438T>C (p.Tyr146=)
NM_002181.4(IHH):c.439G>A (p.Glu147Lys)
NM_002181.4(IHH):c.444C>T (p.Gly148=)
NM_002181.4(IHH):c.446G>A (p.Arg149His)
NM_002181.4(IHH):c.459C>A (p.Ile153=)
NM_002181.4(IHH):c.472C>T (p.Arg158Cys)
NM_002181.4(IHH):c.482A>G (p.Asn161Ser)
NM_002181.4(IHH):c.496C>A (p.Leu166Met)
NM_002181.4(IHH):c.503G>C (p.Arg168Pro)
NM_002181.4(IHH):c.504_548del (p.Leu169_Lys183del)
NM_002181.4(IHH):c.509C>T (p.Ala170Val)
NM_002181.4(IHH):c.512T>C (p.Val171Ala)
NM_002181.4(IHH):c.519C>G (p.Ala173=)
NM_002181.4(IHH):c.527_530del (p.Asp176fs)	rs2106308424
NM_002181.4(IHH):c.531G>A (p.Trp177Ter)
NM_002181.4(IHH):c.532G>A (p.Val178Met)	rs1948841657
NM_002181.4(IHH):c.540C>G (p.Tyr180Ter)
NM_002181.4(IHH):c.542_556del (p.Glu181_His185del)
NM_002181.4(IHH):c.543del (p.Glu181fs)	rs1948841551
NM_002181.4(IHH):c.545_546insTTT (p.Ser182_Lys183insLeu)
NM_002181.4(IHH):c.568G>A (p.Val190Ile)
NM_002181.4(IHH):c.569T>C (p.Val190Ala)	rs121917857
NM_002181.4(IHH):c.577+10C>G
NM_002181.4(IHH):c.577+13C>T
NM_002181.4(IHH):c.577+15G>C
NM_002181.4(IHH):c.577+2T>C
NM_002181.4(IHH):c.584C>T (p.Ser195Leu)
NM_002181.4(IHH):c.585G>T (p.Ser195=)
NM_002181.4(IHH):c.599C>T (p.Thr200Met)
NM_002181.4(IHH):c.604G>A (p.Gly202Ser)
NM_002181.4(IHH):c.604G>T (p.Gly202Cys)
NM_002181.4(IHH):c.619G>A (p.Gly207Arg)
NM_002181.4(IHH):c.619G>C (p.Gly207Arg)
NM_002181.4(IHH):c.61G>C (p.Val21Leu)
NM_002181.4(IHH):c.632G>A (p.Arg211His)
NM_002181.4(IHH):c.635T>C (p.Leu212Pro)	rs1948825661
NM_002181.4(IHH):c.643G>A (p.Gly215Arg)
NM_002181.4(IHH):c.645G>A (p.Gly215=)
NM_002181.4(IHH):c.646G>A (p.Ala216Thr)
NM_002181.4(IHH):c.648G>A (p.Ala216=)
NM_002181.4(IHH):c.651T>A (p.Arg217=)
NM_002181.4(IHH):c.657C>T (p.Ala219=)	rs377249352
NM_002181.4(IHH):c.675G>T (p.Pro225=)	rs376997442
NM_002181.4(IHH):c.687G>A (p.Val229=)
NM_002181.4(IHH):c.692C>T (p.Ala231Val)
NM_002181.4(IHH):c.695T>C (p.Met232Thr)	rs2106307345
NM_002181.4(IHH):c.714dup (p.Thr239fs)
NM_002181.4(IHH):c.748G>A (p.Glu250Lys)	rs1948824514
NM_002181.4(IHH):c.766G>A (p.Ala256Thr)
NM_002181.4(IHH):c.77G>A (p.Trp26Ter)	rs2106310688
NM_002181.4(IHH):c.780C>T (p.Ile260=)
NM_002181.4(IHH):c.791A>T (p.Asp264Val)	rs775340016
NM_002181.4(IHH):c.792C>T (p.Asp264=)
NM_002181.4(IHH):c.799C>G (p.Arg267Gly)	rs748379688
NM_002181.4(IHH):c.799C>T (p.Arg267Cys)	rs748379688
NM_002181.4(IHH):c.803G>A (p.Arg268His)
NM_002181.4(IHH):c.803G>C (p.Arg268Pro)
NM_002181.4(IHH):c.815C>A (p.Thr272Lys)
NM_002181.4(IHH):c.820G>A (p.Ala274Thr)
NM_002181.4(IHH):c.829C>T (p.Leu277Phe)	rs2106307226
NM_002181.4(IHH):c.833T>C (p.Phe278Ser)
NM_002181.4(IHH):c.837G>A (p.Thr279=)
NM_002181.4(IHH):c.84C>T (p.Cys28=)
NM_002181.4(IHH):c.858G>C (p.Pro286=)	rs146055831
NM_002181.4(IHH):c.866G>A (p.Arg289His)
NM_002181.4(IHH):c.871C>T (p.Arg291Trp)
NM_002181.4(IHH):c.876C>T (p.Ala292=)
NM_002181.4(IHH):c.877A>G (p.Thr293Ala)
NM_002181.4(IHH):c.893T>G (p.Val298Gly)
NM_002181.4(IHH):c.89C>T (p.Pro30Leu)
NM_002181.4(IHH):c.902G>T (p.Gly301Val)
NM_002181.4(IHH):c.910G>A (p.Val304Met)	rs752484924
NM_002181.4(IHH):c.915G>T (p.Leu305=)
NM_002181.4(IHH):c.923G>T (p.Gly308Val)	rs1948822341
NM_002181.4(IHH):c.931_937dup (p.Gln313fs)
NM_002181.4(IHH):c.933C>A (p.Gly311=)
NM_002181.4(IHH):c.937C>G (p.Gln313Glu)
NM_002181.4(IHH):c.949G>A (p.Val317Met)	rs886044074
NM_002181.4(IHH):c.963T>A (p.Ser321=)
NM_002181.4(IHH):c.969C>G (p.His323Gln)
NM_002181.4(IHH):c.970G>A (p.Val324Met)
NM_002181.4(IHH):c.982del (p.Ala328fs)	rs1559178876

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