ClinVar Miner

List of variants in gene MYH14 reported as uncertain significance for Inborn genetic diseases

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001145809.2(MYH14):c.1034C>G (p.Ser345Cys) rs35315400 0.00249
NM_001145809.2(MYH14):c.3404G>A (p.Arg1135Gln) rs369620344 0.00020
NM_001145809.2(MYH14):c.4028C>T (p.Ala1343Val) rs374058410 0.00017
NM_001145809.2(MYH14):c.2864G>A (p.Arg955Gln) rs576611342 0.00013
NM_001145809.2(MYH14):c.266T>C (p.Leu89Pro) rs988356194 0.00011
NM_001145809.2(MYH14):c.3475G>T (p.Asp1159Tyr) rs370256265 0.00010
NM_001145809.2(MYH14):c.4156A>T (p.Thr1386Ser) rs377462520 0.00009
NM_001145809.2(MYH14):c.278G>T (p.Arg93Leu) rs767001869 0.00007
NM_001145809.2(MYH14):c.3883C>T (p.Arg1295Trp) rs372367091 0.00007
NM_001145809.2(MYH14):c.4219C>T (p.Arg1407Cys) rs535145284 0.00006
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys) rs200818171 0.00006
NM_001145809.2(MYH14):c.230A>C (p.Glu77Ala) rs748365469 0.00005
NM_001145809.2(MYH14):c.3623C>T (p.Ala1208Val) rs758560911 0.00005
NM_001145809.2(MYH14):c.3260G>A (p.Arg1087Gln) rs370923801 0.00004
NM_001145809.2(MYH14):c.3595C>T (p.Arg1199Cys) rs371244397 0.00004
NM_001145809.2(MYH14):c.3745G>A (p.Glu1249Lys) rs373336821 0.00004
NM_001145809.2(MYH14):c.4439G>A (p.Arg1480His) rs187782753 0.00004
NM_001145809.2(MYH14):c.1418G>A (p.Arg473His) rs199812021 0.00003
NM_001145809.2(MYH14):c.1789C>T (p.Arg597Trp) rs200843734 0.00003
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln) rs377014092 0.00003
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His) rs727504915 0.00003
NM_001145809.2(MYH14):c.1834G>A (p.Asp612Asn) rs571071269 0.00002
NM_001145809.2(MYH14):c.1295G>A (p.Arg432Gln) rs751011647 0.00001
NM_001145809.2(MYH14):c.4264C>T (p.Arg1422Cys) rs727503226 0.00001
NM_001145809.2(MYH14):c.4283A>G (p.Gln1428Arg) rs368069617 0.00001
NM_001145809.2(MYH14):c.4486C>G (p.Gln1496Glu) rs141995460 0.00001
NM_001145809.2(MYH14):c.4849G>A (p.Glu1617Lys) rs553038266 0.00001
NM_001145809.2(MYH14):c.5534G>A (p.Arg1845Gln) rs201040702 0.00001
NM_001145809.2(MYH14):c.136C>G (p.Pro46Ala)
NM_001145809.2(MYH14):c.1595C>T (p.Pro532Leu)
NM_001145809.2(MYH14):c.1621G>A (p.Asp541Asn)
NM_001145809.2(MYH14):c.1727T>G (p.Phe576Cys)
NM_001145809.2(MYH14):c.1756G>A (p.Gly586Ser)
NM_001145809.2(MYH14):c.1848C>G (p.Asn616Lys)
NM_001145809.2(MYH14):c.2071G>C (p.Val691Leu)
NM_001145809.2(MYH14):c.2252G>A (p.Arg751Gln)
NM_001145809.2(MYH14):c.2431G>T (p.Ala811Ser)
NM_001145809.2(MYH14):c.2440C>A (p.Leu814Met)
NM_001145809.2(MYH14):c.248C>T (p.Ala83Val)
NM_001145809.2(MYH14):c.2750A>C (p.Gln917Pro)
NM_001145809.2(MYH14):c.2846G>A (p.Arg949His)
NM_001145809.2(MYH14):c.2866G>A (p.Ala956Thr)
NM_001145809.2(MYH14):c.3068C>T (p.Ala1023Val)
NM_001145809.2(MYH14):c.3299G>A (p.Arg1100His)
NM_001145809.2(MYH14):c.3419G>A (p.Arg1140Gln)
NM_001145809.2(MYH14):c.3565C>T (p.Arg1189Cys)
NM_001145809.2(MYH14):c.3931C>T (p.Arg1311Trp)
NM_001145809.2(MYH14):c.3968A>G (p.Gln1323Arg)
NM_001145809.2(MYH14):c.4022A>G (p.Gln1341Arg)
NM_001145809.2(MYH14):c.4087C>T (p.Arg1363Cys) rs375687883
NM_001145809.2(MYH14):c.4306C>T (p.Arg1436Trp) rs762144894
NM_001145809.2(MYH14):c.4315G>A (p.Glu1439Lys)
NM_001145809.2(MYH14):c.4357C>T (p.Arg1453Cys)
NM_001145809.2(MYH14):c.4369C>T (p.Arg1457Trp)
NM_001145809.2(MYH14):c.4459C>G (p.Leu1487Val)
NM_001145809.2(MYH14):c.4549G>A (p.Glu1517Lys) rs2123437042
NM_001145809.2(MYH14):c.4571G>A (p.Arg1524Gln)
NM_001145809.2(MYH14):c.4576G>A (p.Val1526Met)
NM_001145809.2(MYH14):c.4744G>A (p.Gly1582Ser)
NM_001145809.2(MYH14):c.4906C>T (p.Arg1636Cys)
NM_001145809.2(MYH14):c.5009G>T (p.Arg1670Leu)
NM_001145809.2(MYH14):c.5014C>G (p.Leu1672Val)
NM_001145809.2(MYH14):c.5275C>T (p.Arg1759Cys)
NM_001145809.2(MYH14):c.5348C>A (p.Ala1783Glu)
NM_001145809.2(MYH14):c.5473G>C (p.Glu1825Gln)
NM_001145809.2(MYH14):c.5614A>G (p.Met1872Val)
NM_001145809.2(MYH14):c.5938A>G (p.Thr1980Ala)
NM_001145809.2(MYH14):c.5987G>T (p.Arg1996Leu)
NM_001145809.2(MYH14):c.5996G>A (p.Arg1999His)
NM_001145809.2(MYH14):c.6100C>T (p.His2034Tyr)
NM_001145809.2(MYH14):c.659C>T (p.Ser220Leu)
NM_001145809.2(MYH14):c.853G>A (p.Val285Met)
NM_001145809.2(MYH14):c.988G>A (p.Glu330Lys)

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