ClinVar Miner

List of variants studied for contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.1581+1G>A rs1350968647 0.00001
NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup) rs878853126
NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro) rs796051884
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) rs1567553806
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del) rs1555527166
NM_002470.4(MYH3):c.859T>G (p.Phe287Val) rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) rs1567559562

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