ClinVar Miner

List of variants in gene MYH8, MYHAS studied for Carney complex

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) rs35962914 0.00723
NM_002472.3(MYH8):c.1632T>C (p.Pro544=) rs144596237 0.00409
NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter) rs150008607 0.00024
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) rs34124921 0.00010
NM_002472.3(MYH8):c.479T>A (p.Ile160Asn) rs760980150 0.00007
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) rs121434590 0.00001
NM_002472.3(MYH8):c.1640C>T (p.Thr547Met) rs149040691
NM_002472.3(MYH8):c.4724T>C (p.Val1575Ala) rs61730805

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