ClinVar Miner

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

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.-64G>A rs2270421 0.24706
NM_013382.7(POMT2):c.-124G>A rs147337187 0.06001
NM_013382.7(POMT2):c.-128C>T rs116224770 0.03577

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