ClinVar Miner

List of variants in gene POLA1 studied for X-linked intellectual disability, van Esch type

Included ClinVar conditions (2):
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Total variants: 22
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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
NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val) rs756416451 0.00004
NM_001330360.2(POLA1):c.1834-3C>T rs757070068 0.00002
NM_001330360.2(POLA1):c.1931A>G (p.Asn644Ser) rs1931360275 0.00002
NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn) rs774419889 0.00001
NM_001330360.2(POLA1):c.463-9C>T rs778776585 0.00001
NM_001330360.2(POLA1):c.254T>G (p.Ile85Ser) rs1569271378
NM_001330360.2(POLA1):c.3046A>G (p.Thr1016Ala) rs2045884607
NM_001330360.2(POLA1):c.3050A>G (p.Asn1017Ser) rs2045884809
NM_001330360.2(POLA1):c.3212A>G (p.Asp1071Gly)
NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg) rs1569271892
NM_001330360.2(POLA1):c.3950G>A (p.Ser1317Asn)
NM_001330360.2(POLA1):c.4001A>G (p.Asn1334Ser)
NM_001330360.2(POLA1):c.4160C>T (p.Pro1387Leu) rs1569350993
NM_001330360.2(POLA1):c.4313A>T (p.Lys1438Ile)
NM_001330360.2(POLA1):c.463-2A>T rs2148341850
NM_001330360.2(POLA1):c.478T>C (p.Ser160Pro) rs2148341883
NM_001330360.2(POLA1):c.525+1G>A rs1569277899
NM_016937.3(POLA1):c.445_507del rs1569277866

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