ClinVar Miner

List of variants in gene MYH7 reported as likely pathogenic for congenital heart disease

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.1000-1G>A rs113392527 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.1021T>A (p.Phe341Ile) rs2138677574
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) rs727504753
NM_000257.4(MYH7):c.1189A>G (p.Lys397Glu) rs1566535410
NM_000257.4(MYH7):c.1311C>A (p.Asn437Lys) rs1595086845
NM_000257.4(MYH7):c.1405G>T (p.Asp469Tyr) rs397516106
NM_000257.4(MYH7):c.1423C>A (p.Gln475Lys) rs1566534775
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) rs863224900
NM_000257.4(MYH7):c.1559G>T (p.Cys520Phe) rs1892789510
NM_000257.4(MYH7):c.1858_1859del (p.Leu620fs) rs1566533919
NM_000257.4(MYH7):c.1998T>A (p.His666Gln)
NM_000257.4(MYH7):c.2086A>C (p.Asn696His)
NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr) rs1555337916
NM_000257.4(MYH7):c.2171T>A (p.Ile724Asn) rs397516136
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) rs397516190
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) rs727503249
NM_000257.4(MYH7):c.514C>G (p.Gln172Glu) rs2138683978
NM_000257.4(MYH7):c.5390T>C (p.Leu1797Pro) rs1114167322
NM_000257.4(MYH7):c.640-2A>T rs2138681961
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.732+1del rs397516266
NM_000257.4(MYH7):c.732+2T>G rs1555338658

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