ClinVar Miner

List of variants in gene POLA1 studied for X-linked reticulate pigmentary disorder

Included ClinVar conditions (2):
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Total variants: 11
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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.3622G>C (p.Asp1208His) rs41548013 0.00404
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg) rs2230928 0.00390
NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=) rs150514156 0.00013
NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val) rs756416451 0.00004
NM_001330360.2(POLA1):c.1193G>A (p.Arg398His) rs915033662 0.00001
NM_001330360.2(POLA1):c.1393-354A>G rs869312979
NM_001330360.2(POLA1):c.2018G>A (p.Arg673Gln)
NM_001330360.2(POLA1):c.3806G>T (p.Gly1269Val)
NM_001330360.2(POLA1):c.412A>G (p.Asn138Asp) rs1555973963

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