ClinVar Miner

List of variants in gene PCDH19 reported as benign for not provided

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001184880.1(PCDH19):c.-1738G>C rs5967130 0.99962
NM_001184880.1(PCDH19):c.-1690C>T rs113897133 0.28732
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_001184880.2(PCDH19):c.-488G>C rs180840648 0.14059
NM_001184880.2(PCDH19):c.2616+191G>T rs10482000 0.05593
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426 0.01400
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927 0.00074
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001184880.2(PCDH19):c.-40G>A rs766331456 0.00042
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797 0.00038
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773 0.00031
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) rs375759744 0.00022
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NC_000023.11:g.100410351GCC[1] rs34987103
NM_001184880.2(PCDH19):c.-1142CGG[13] rs59564734
NM_001184880.2(PCDH19):c.-1142CGG[7] rs59564734
NM_001184880.2(PCDH19):c.-423C>T rs111823340
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325

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