List of variants in gene MYPN reported as uncertain significance for hereditary skeletal muscle disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)	rs140148105	0.00130
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)	rs71534280	0.00083
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)	rs142877365	0.00052
NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu)	rs148942084	0.00026
NM_032578.4(MYPN):c.2321C>A (p.Ser774Tyr)	rs140933016	0.00024
NM_032578.4(MYPN):c.952G>A (p.Val318Ile)	rs112518450	0.00021
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly)	rs146336815	0.00014
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val)	rs730880170	0.00012
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys)	rs140037748	0.00011
NM_032578.4(MYPN):c.3848G>A (p.Arg1283His)	rs372512501	0.00011
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)	rs376945733	0.00010
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln)	rs199476414	0.00009
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg)	rs201983087	0.00008
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser)	rs768968410	0.00007
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val)	rs201975081	0.00007
NM_032578.4(MYPN):c.1130+3A>C	rs770005365	0.00006
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln)	rs141031460	0.00006
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser)	rs550455783	0.00006
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val)	rs181848049	0.00006
NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu)	rs780297988	0.00004
NM_032578.4(MYPN):c.1789C>T (p.Arg597Cys)	rs367570424	0.00004
NM_032578.4(MYPN):c.194C>T (p.Ala65Val)	rs147553723	0.00004
NM_032578.4(MYPN):c.3272G>A (p.Arg1091Gln)	rs768452699	0.00004
NM_032578.4(MYPN):c.2644G>A (p.Ala882Thr)	rs199476411	0.00003
NM_032578.4(MYPN):c.890C>T (p.Pro297Leu)	rs138187845	0.00003
NM_032578.4(MYPN):c.1716A>C (p.Gln572His)	rs567930066	0.00002
NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln)	rs142874859	0.00002
NM_032578.4(MYPN):c.3485C>G (p.Ser1162Cys)	rs548754907	0.00002
NM_032578.4(MYPN):c.1306G>A (p.Val436Met)	rs1172083148	0.00001
NM_032578.4(MYPN):c.1436C>G (p.Pro479Arg)	rs770366905	0.00001
NM_032578.4(MYPN):c.1452A>C (p.Leu484Phe)	rs749716693	0.00001
NM_032578.4(MYPN):c.1512G>T (p.Glu504Asp)	rs935247269	0.00001
NM_032578.4(MYPN):c.1771A>G (p.Ser591Gly)	rs767800921	0.00001
NM_032578.4(MYPN):c.1888G>A (p.Glu630Lys)	rs794729072	0.00001
NM_032578.4(MYPN):c.2051C>G (p.Ser684Cys)	rs577089308	0.00001
NM_032578.4(MYPN):c.2095G>A (p.Ala699Thr)	rs1386715407	0.00001
NM_032578.4(MYPN):c.2464C>T (p.Arg822Trp)	rs529221329	0.00001
NM_032578.4(MYPN):c.2560T>A (p.Ser854Thr)	rs200432306	0.00001
NM_032578.4(MYPN):c.2693C>A (p.Pro898Gln)	rs771428473	0.00001
NM_032578.4(MYPN):c.271G>A (p.Ala91Thr)	rs763043084	0.00001
NM_032578.4(MYPN):c.2834C>T (p.Pro945Leu)	rs1477487826	0.00001
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser)	rs864622711	0.00001
NM_032578.4(MYPN):c.308A>T (p.Asp103Val)	rs758026056	0.00001
NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro)	rs374007615	0.00001
NM_032578.4(MYPN):c.3160G>A (p.Gly1054Arg)	rs900098416	0.00001
NM_032578.4(MYPN):c.3206G>A (p.Arg1069His)	rs763362861	0.00001
NM_032578.4(MYPN):c.325C>T (p.Pro109Ser)	rs748574829	0.00001
NM_032578.4(MYPN):c.3379G>A (p.Gly1127Arg)	rs752302519	0.00001
NM_032578.4(MYPN):c.3457G>A (p.Gly1153Arg)	rs763805681	0.00001
NM_032578.4(MYPN):c.35T>C (p.Ile12Thr)	rs869025490	0.00001
NM_032578.4(MYPN):c.3623A>G (p.Asp1208Gly)	rs2043722325	0.00001
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg)	rs750277122	0.00001
NM_032578.4(MYPN):c.3923C>T (p.Ser1308Leu)	rs781048271	0.00001
NM_032578.4(MYPN):c.712G>A (p.Ala238Thr)	rs755212697	0.00001
NM_032578.4(MYPN):c.844G>A (p.Glu282Lys)	rs1265232754	0.00001
NM_032578.4(MYPN):c.865G>T (p.Asp289Tyr)	rs201460662	0.00001
NM_032578.4(MYPN):c.895C>A (p.Gln299Lys)	rs1299051222	0.00001
NM_032578.4(MYPN):c.101G>A (p.Arg34Gln)	rs730880168
NM_032578.4(MYPN):c.1253G>A (p.Ser418Asn)	rs1008949819
NM_032578.4(MYPN):c.1676A>C (p.Gln559Pro)	rs1187897430
NM_032578.4(MYPN):c.1805T>C (p.Leu602Pro)	rs779148735
NM_032578.4(MYPN):c.2165G>A (p.Arg722Gln)	rs530701227
NM_032578.4(MYPN):c.217G>C (p.Asp73His)	rs2042244267
NM_032578.4(MYPN):c.2228C>A (p.Pro743Gln)	rs138583865
NM_032578.4(MYPN):c.2246G>C (p.Ser749Thr)
NM_032578.4(MYPN):c.2285G>A (p.Ser762Asn)
NM_032578.4(MYPN):c.2435T>C (p.Val812Ala)	rs1131691857
NM_032578.4(MYPN):c.2503C>A (p.Pro835Thr)	rs1196958004
NM_032578.4(MYPN):c.254A>G (p.Tyr85Cys)
NM_032578.4(MYPN):c.2565-17G>A	rs1334366122
NM_032578.4(MYPN):c.2756G>A (p.Arg919His)	rs193022869
NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu)	rs193022869
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)	rs149887823
NM_032578.4(MYPN):c.2926G>T (p.Val976Phe)	rs943422668
NM_032578.4(MYPN):c.3158+6G>T
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter)	rs1057519572
NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln)	rs150414382
NM_032578.4(MYPN):c.3262C>T (p.Arg1088Cys)	rs372824930
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp)	rs754707304
NM_032578.4(MYPN):c.3301C>A (p.Pro1101Thr)	rs1284303981
NM_032578.4(MYPN):c.3335C>A (p.Pro1112His)	rs71534278
NM_032578.4(MYPN):c.3380G>T (p.Gly1127Val)
NM_032578.4(MYPN):c.3415C>T (p.Arg1139Cys)
NM_032578.4(MYPN):c.3442G>T (p.Ala1148Ser)	rs200390297
NM_032578.4(MYPN):c.3644C>T (p.Thr1215Ile)
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly)	rs1589614570
NM_032578.4(MYPN):c.3661A>G (p.Met1221Val)	rs1564702434
NM_032578.4(MYPN):c.373C>G (p.Pro125Ala)	rs2133994610
NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs)	rs2043824248
NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr)	rs199476416
NM_032578.4(MYPN):c.3825G>A (p.Met1275Ile)	rs777519016
NM_032578.4(MYPN):c.3865A>G (p.Ser1289Gly)
NM_032578.4(MYPN):c.3899C>T (p.Ser1300Phe)	rs1564704607
NM_032578.4(MYPN):c.54G>C (p.Glu18Asp)	rs876657919
NM_032578.4(MYPN):c.587_593delinsTAAC (p.Ser196_Ser198delinsIleThr)
NM_032578.4(MYPN):c.601G>A (p.Asp201Asn)	rs1454105180
NM_032578.4(MYPN):c.729T>G (p.Ser243Arg)	rs794727304
NM_032578.4(MYPN):c.805C>A (p.Pro269Thr)	rs560119421
NM_032578.4(MYPN):c.826C>G (p.Arg276Gly)	rs745678026

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