ClinVar Miner

List of variants in gene POLA1 reported as likely benign for X-linked reticulate pigmentary disorder

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=) rs11573531 0.00965
NM_001330360.2(POLA1):c.1687-15C>T rs11573348 0.00442
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg) rs2230928 0.00390
NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=) rs150514156 0.00013

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