ClinVar Miner

List of variants in gene MYH11 studied for Inborn genetic diseases

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_002474.3(MYH11):c.1078G>A (p.Val360Ile) rs111677442 0.00021
NM_002474.3(MYH11):c.3817C>T (p.Arg1273Trp) rs142227497 0.00004
NM_002474.3(MYH11):c.2807A>T (p.Asp936Val) rs1341541765 0.00003
NM_002474.3(MYH11):c.988G>A (p.Val330Met) rs368938309 0.00002
NM_002474.3(MYH11):c.1567G>C (p.Glu523Gln) rs1555562770 0.00001
NM_002474.3(MYH11):c.2426G>A (p.Arg809Lys) rs534802983 0.00001
NM_002474.3(MYH11):c.136G>C (p.Glu46Gln)
NM_002474.3(MYH11):c.2141G>T (p.Gly714Val) rs1555560489
NM_002474.3(MYH11):c.2554G>C (p.Glu852Gln)
NM_002474.3(MYH11):c.2914G>C (p.Glu972Gln) rs2151248140
NM_002474.3(MYH11):c.3040A>C (p.Asn1014His)
NM_002474.3(MYH11):c.3805A>G (p.Ser1269Gly) rs200012419
NM_002474.3(MYH11):c.651G>C (p.Gln217His)
NM_002474.3(MYH11):c.874A>G (p.Lys292Glu)

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