ClinVar Miner

List of variants in gene MYH3 reported as uncertain significance for contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Included ClinVar conditions (5):
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_002470.4(MYH3):c.118G>A (p.Val40Met) rs148637119 0.00010
NM_002470.3(MYH3):c.[721A>G;724_725delTCinsTT]
NM_002470.4(MYH3):c.1156G>T (p.Ala386Ser)
NM_002470.4(MYH3):c.3227A>C (p.Gln1076Pro)
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) rs1567553806
NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln) rs1567553702
NM_002470.4(MYH3):c.5618A>C (p.Gln1873Pro) rs2142377128
NM_002470.4(MYH3):c.730C>T (p.Arg244Cys)

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