ClinVar Miner

List of variants in gene MYH14 studied for peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001145809.2(MYH14):c.3033+11T>C rs930086 0.86981
NM_001145809.2(MYH14):c.5788-41A>G rs889002 0.83244
NM_001145809.2(MYH14):c.5678+12C>T rs3826772 0.78229
NM_001145809.2(MYH14):c.2694+30T>C rs1529492 0.74599
NM_001145809.2(MYH14):c.2250A>G (p.Pro750=) rs1651553 0.74436
NM_001145809.2(MYH14):c.5469+16C>T rs3745510 0.64922
NM_001145809.2(MYH14):c.5430G>A (p.Ser1810=) rs3745509 0.63924
NM_001145809.2(MYH14):c.657G>A (p.Ala219=) rs4801822 0.56915
NM_001145809.2(MYH14):c.3018G>A (p.Leu1006=) rs3745504 0.53291
NM_001145809.2(MYH14):c.3681-26A>T rs788337 0.50766
NM_001145809.2(MYH14):c.2355-14C>T rs12981413 0.46235
NM_001145809.2(MYH14):c.2205C>G (p.Arg735=) rs378811 0.38312
NM_001145809.2(MYH14):c.1114+13C>T rs11666328 0.32285
NM_001145809.2(MYH14):c.2355-17C>T rs28482851 0.23202
NM_001145809.2(MYH14):c.2827-9A>C rs3745503 0.14515
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001145809.2(MYH14):c.1329+15C>T rs200176028 0.00227
NM_001145809.2(MYH14):c.563-17C>A rs201570558 0.00116
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011 0.00093
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738 0.00037
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys) rs556541366 0.00012
NM_001145809.2(MYH14):c.1067C>T (p.Thr356Met) rs151082668 0.00011
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_001145809.2(MYH14):c.1049G>A (p.Arg350Gln) rs373908919 0.00010
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln) rs763472009 0.00010
NM_001145809.2(MYH14):c.5469+13del rs760445854 0.00006
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu) rs371300947 0.00003
NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys) rs755704452 0.00003
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His) rs727504915 0.00003
NM_001145809.2(MYH14):c.4693C>T (p.Arg1565Trp) rs769989306 0.00003
NM_001145809.2(MYH14):c.500G>A (p.Arg167His) rs776632941 0.00003
NM_001145809.2(MYH14):c.5986C>T (p.Arg1996Cys) rs749591626 0.00003
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644 0.00001
NM_001145809.2(MYH14):c.2347C>T (p.Arg783Trp) rs747057989 0.00001
NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met) rs142134135 0.00001
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=) rs886054592 0.00001
NM_001145809.2(MYH14):c.3401A>G (p.Gln1134Arg) rs934260773 0.00001
NM_001145809.2(MYH14):c.4761G>A (p.Glu1587=) rs2035993400 0.00001
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) rs758424787 0.00001
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp) rs1568504395
NM_001145809.2(MYH14):c.2272C>G (p.Arg758Gly)
NM_001145809.2(MYH14):c.2282G>C (p.Gly761Ala)
NM_001145809.2(MYH14):c.2299C>T (p.Arg767Cys) rs28940307
NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro) rs2034878363
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys) rs753356694
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) rs113993956
NM_001145809.2(MYH14):c.2929G>C (p.Glu977Gln)
NM_001145809.2(MYH14):c.3296-1G>C
NM_001145809.2(MYH14):c.3457G>A (p.Ala1153Thr) rs2123394094
NM_001145809.2(MYH14):c.3820C>T (p.Arg1274Trp)
NM_001145809.2(MYH14):c.4582G>A (p.Glu1528Lys) rs944541812
NM_001145809.2(MYH14):c.4609C>T (p.Arg1537Trp)
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) rs556548077
NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp) rs116035034
NM_001145809.2(MYH14):c.5368C>T (p.Arg1790Cys)
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His) rs567922009
NM_001145809.2(MYH14):c.5848G>A (p.Glu1950Lys) rs774096368
NM_001145809.2(MYH14):c.6034G>A (p.Glu2012Lys)
NM_001145809.2(MYH14):c.6097G>C (p.Ala2033Pro) rs2036794429
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro) rs1215273187
NM_001145809.2(MYH14):c.6108_6111del (p.Gln2036fs) rs2036795216
NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser) rs590722

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