ClinVar Miner

List of variants reported as not provided for fetal akinesia deformation sequence

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser) rs55826142 0.00116
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn) rs202239254 0.00001
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys) rs2077900685
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro) rs150415034

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