ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as likely pathogenic for congenital myopathy

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.2919del (p.Glu974fs) rs1567819905
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys) rs1181083611
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
NM_000334.4(SCN4A):c.3798G>C (p.Glu1266Asp)
NM_000334.4(SCN4A):c.4340T>C (p.Phe1447Ser)
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805

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