ClinVar Miner

List of variants in gene combination LOC130056177, POMT2 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.-56G>A rs567281401 0.01276
NM_013382.7(POMT2):c.12C>T (p.Ala4=)
NM_013382.7(POMT2):c.25C>T (p.Leu9=) rs1280735533
NM_013382.7(POMT2):c.30A>G (p.Ala10=) rs2139552052
NM_013382.7(POMT2):c.6G>C (p.Pro2=)
NM_013382.7(POMT2):c.9G>A (p.Pro3=) rs1594813347

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