ClinVar Miner

List of variants in gene POLA1 reported as benign by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001330360.2(POLA1):c.3717C>A (p.Val1239=) rs11573423 0.04855
NM_001330360.2(POLA1):c.1167C>T (p.Ile389=) rs11573338 0.01962
NM_001330360.2(POLA1):c.1532-12A>G rs41305181 0.01022
NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=) rs11573531 0.00965
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg) rs2230928 0.00390
NM_001330360.2(POLA1):c.557T>C (p.Ile186Thr) rs61756399 0.00206
NM_001330360.2(POLA1):c.4185C>T (p.Tyr1395=) rs61756363 0.00122
NM_001330360.2(POLA1):c.361G>A (p.Ala121Thr) rs141903278 0.00005
NM_001330360.2(POLA1):c.4395C>T (p.Ala1465=) rs144848232

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