ClinVar Miner

List of variants studied for congenital heart defects and ectodermal dysplasia

Included ClinVar conditions (1):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_002742.3(PRKD1):c.2435-14G>A rs2273815 0.72004
NM_002742.3(PRKD1):c.2202T>C (p.Ile734=) rs2230505 0.50013
NM_002742.3(PRKD1):c.2166+39A>C rs2273813 0.49489
NM_002742.3(PRKD1):c.2167-12T>A rs3783299 0.42526
NM_002742.3(PRKD1):c.265-5T>C rs45442100 0.01388
NM_002742.3(PRKD1):c.1441G>A (p.Ala481Thr) rs151073459 0.00076
NM_002742.3(PRKD1):c.1456G>A (p.Gly486Arg) rs142868862 0.00011
NM_002742.3(PRKD1):c.445C>G (p.Leu149Val) rs1168333527 0.00002
NM_002742.3(PRKD1):c.1322G>A (p.Arg441Gln) rs1181038822 0.00001
NM_002742.3(PRKD1):c.2626C>T (p.Gln876Ter) rs1479389213 0.00001
NM_002742.3(PRKD1):c.1061G>A (p.Ser354Asn)
NM_002742.3(PRKD1):c.1316G>A (p.Arg439Gln) rs1439477100
NM_002742.3(PRKD1):c.1585G>A (p.Ala529Thr)
NM_002742.3(PRKD1):c.1754C>T (p.Pro585Leu)
NM_002742.3(PRKD1):c.1774G>A (p.Gly592Arg) rs1057519635
NM_002742.3(PRKD1):c.1808G>A (p.Arg603His)
NM_002742.3(PRKD1):c.1874G>T (p.Ser625Ile)
NM_002742.3(PRKD1):c.1905+2T>A rs2139090218
NM_002742.3(PRKD1):c.1947T>G (p.Phe649Leu) rs565275870
NM_002742.3(PRKD1):c.2068-11C>A rs1893419059
NM_002742.3(PRKD1):c.2219G>A (p.Arg740Gln) rs752897300
NM_002742.3(PRKD1):c.265-1G>T
NM_002742.3(PRKD1):c.317A>G (p.His106Arg) rs1886101666
NM_002742.3(PRKD1):c.345G>C (p.Gln115His)
NM_002742.3(PRKD1):c.442G>A (p.Ala148Thr) rs1249972372
NM_002742.3(PRKD1):c.496A>G (p.Met166Val) rs1462349007
NM_002742.3(PRKD1):c.815C>T (p.Thr272Ile)
NM_002742.3(PRKD1):c.896T>G (p.Leu299Trp) rs1057519636

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