ClinVar Miner

List of variants in gene DHTKD1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln) rs78189904 0.00074
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln) rs142068634 0.00016
NM_018706.7(DHTKD1):c.307G>T (p.Ala103Ser) rs35442324 0.00011
NM_018706.7(DHTKD1):c.1720G>A (p.Ala574Thr) rs200095700 0.00006
NM_018706.7(DHTKD1):c.1408G>A (p.Gly470Arg) rs35898320 0.00005
NM_018706.7(DHTKD1):c.446G>A (p.Arg149Gln) rs773052090 0.00004
NM_018706.7(DHTKD1):c.305C>T (p.Thr102Met) rs769632958 0.00003
NM_018706.7(DHTKD1):c.626C>T (p.Ser209Leu) rs780598300 0.00003
NM_018706.7(DHTKD1):c.1258C>T (p.Arg420Cys) rs762746645 0.00002
NM_018706.7(DHTKD1):c.1742C>G (p.Ser581Cys) rs1348311643 0.00002
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) rs375292909 0.00002
NM_018706.7(DHTKD1):c.1853T>A (p.Ile618Asn) rs761295635 0.00002
NM_018706.7(DHTKD1):c.2429G>A (p.Gly810Asp) rs781524340 0.00002
NM_018706.7(DHTKD1):c.2456A>G (p.Gln819Arg) rs749073861 0.00002
NM_018706.7(DHTKD1):c.976A>G (p.Ile326Val) rs745602291 0.00002
NM_018706.7(DHTKD1):c.2402+3A>G rs754298961 0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) rs1016086446 0.00001
NM_018706.7(DHTKD1):c.403T>G (p.Ser135Ala) rs755902715 0.00001
NM_018706.7(DHTKD1):c.824C>T (p.Ala275Val) rs374760148 0.00001
NM_018706.7(DHTKD1):c.931G>A (p.Gly311Ser) rs372367790 0.00001
NM_018706.7(DHTKD1):c.965G>C (p.Gly322Ala) rs200814440 0.00001
NM_018706.7(DHTKD1):c.1114A>G (p.Thr372Ala)
NM_018706.7(DHTKD1):c.1133G>A (p.Arg378Lys)
NM_018706.7(DHTKD1):c.1159+5G>A
NM_018706.7(DHTKD1):c.1259G>T (p.Arg420Leu)
NM_018706.7(DHTKD1):c.1418C>T (p.Thr473Met)
NM_018706.7(DHTKD1):c.1585G>A (p.Asp529Asn)
NM_018706.7(DHTKD1):c.1604G>T (p.Gly535Val)
NM_018706.7(DHTKD1):c.1671+4G>A
NM_018706.7(DHTKD1):c.1696G>A (p.Gly566Arg)
NM_018706.7(DHTKD1):c.1703A>T (p.Lys568Met)
NM_018706.7(DHTKD1):c.1812G>C (p.Arg604Ser)
NM_018706.7(DHTKD1):c.1889T>G (p.Phe630Cys)
NM_018706.7(DHTKD1):c.1904A>G (p.Asn635Ser)
NM_018706.7(DHTKD1):c.1928T>C (p.Val643Ala)
NM_018706.7(DHTKD1):c.2009A>G (p.Asn670Ser)
NM_018706.7(DHTKD1):c.2168C>T (p.Ala723Val)
NM_018706.7(DHTKD1):c.2263C>T (p.Arg755Trp)
NM_018706.7(DHTKD1):c.2319G>C (p.Pro773=)
NM_018706.7(DHTKD1):c.2618C>T (p.Ser873Leu)
NM_018706.7(DHTKD1):c.2621T>G (p.Phe874Cys)
NM_018706.7(DHTKD1):c.2658+1G>T
NM_018706.7(DHTKD1):c.2659-3_2659-2del rs761529786
NM_018706.7(DHTKD1):c.337G>C (p.Ala113Pro)
NM_018706.7(DHTKD1):c.500C>T (p.Ser167Leu)
NM_018706.7(DHTKD1):c.523G>A (p.Glu175Lys)
NM_018706.7(DHTKD1):c.700_701delinsGG (p.Leu234Gly) rs2131357438
NM_018706.7(DHTKD1):c.818T>C (p.Phe273Ser)
NM_018706.7(DHTKD1):c.831T>G (p.His277Gln)
NM_018706.7(DHTKD1):c.859C>A (p.Pro287Thr)
NM_018706.7(DHTKD1):c.940T>C (p.Ser314Pro)
NM_018706.7(DHTKD1):c.970A>G (p.Arg324Gly)

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