ClinVar Miner

List of variants in gene combination MYH8, MYHAS studied for MYH8-related disorder

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) rs35962914 0.00663
NM_002472.3(MYH8):c.1632T>C (p.Pro544=) rs144596237 0.00409
NM_002472.3(MYH8):c.225G>C (p.Arg75Ser) rs146732664 0.00220
NM_002472.3(MYH8):c.143C>T (p.Ser48Phe) rs146669648 0.00101
NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys) rs140562514 0.00083
NM_002472.3(MYH8):c.954G>C (p.Gln318His) rs142606252 0.00081
NM_002472.3(MYH8):c.430G>C (p.Ala144Pro) rs138262102 0.00065
NM_002472.3(MYH8):c.4878T>C (p.Asn1626=) rs202123184 0.00055
NM_002472.3(MYH8):c.4786G>A (p.Val1596Ile) rs61730807 0.00052
NM_002472.3(MYH8):c.4147A>G (p.Ile1383Val) rs138607111 0.00045
NM_002472.3(MYH8):c.2117G>A (p.Arg706His) rs150351713 0.00020
NM_002472.3(MYH8):c.304C>G (p.Pro102Ala) rs149941951 0.00014
NM_002472.3(MYH8):c.320A>G (p.Asn107Ser) rs139192237 0.00008
NM_002472.3(MYH8):c.4353C>T (p.Asn1451=) rs756865778 0.00007
NM_002472.3(MYH8):c.417C>T (p.Pro139=) rs531526832 0.00005
NM_002472.3(MYH8):c.1580T>C (p.Ile527Thr) rs769185512 0.00001
NM_002472.3(MYH8):c.2020C>T (p.Arg674Trp) rs762523289 0.00001
NM_002472.3(MYH8):c.355-9T>C rs776667568 0.00001
NM_002472.3(MYH8):c.4962+7G>A rs770966811 0.00001
NM_002472.3(MYH8):c.105T>C (p.Asp35=)
NM_002472.3(MYH8):c.1659C>A (p.Asn553Lys) rs2508067992
NM_002472.3(MYH8):c.405G>T (p.Pro135=) rs775704195

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