ClinVar Miner

List of variants in gene KCTD1 studied for Scalp-ear-nipple syndrome

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001142730.3(KCTD1):c.2181C>T (p.Pro727=) rs180735402 0.00016
NM_001142730.3(KCTD1):c.2384C>T (p.Ser795Leu) rs370694764 0.00003
NM_001142730.3(KCTD1):c.1106G>A (p.Ser369Asn)
NM_001142730.3(KCTD1):c.1871A>G (p.Asn624Ser)
NM_001142730.3(KCTD1):c.1882C>A (p.Pro628Thr)
NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser) rs878853125
NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu) rs587776998
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His) rs587776999
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg) rs587776999
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu) rs587776999
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro) rs587777001
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln) rs587777000
NM_001142730.3(KCTD1):c.1977C>T (p.Tyr659=)
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) rs587777003
NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu) rs878853124
NM_001142730.3(KCTD1):c.2041C>T (p.Gln681Ter)
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro) rs587777002
NM_001142730.3(KCTD1):c.2056G>C (p.Asp686His)
NM_001142730.3(KCTD1):c.2073G>A (p.Met691Ile)
NM_001142730.3(KCTD1):c.2133+4A>G
NM_001142730.3(KCTD1):c.2134-15_2134-14del
NM_001142730.3(KCTD1):c.2179C>T (p.Pro727Ser)
NM_001142730.3(KCTD1):c.2203T>C (p.Trp735Arg)
NM_001142730.3(KCTD1):c.220G>T (p.Asp74Tyr)
NM_001142730.3(KCTD1):c.2212G>A (p.Asp738Asn)
NM_001142730.3(KCTD1):c.2303A>C (p.Asp768Ala)
NM_001142730.3(KCTD1):c.2305A>C (p.Lys769Gln)
NM_001142730.3(KCTD1):c.2320G>A (p.Glu774Lys)
NM_001142730.3(KCTD1):c.2321A>T (p.Glu774Val)
NM_001142730.3(KCTD1):c.2344G>A (p.Val782Met)
NM_001142730.3(KCTD1):c.2355_2363del (p.Ser786_Asn788del)
NM_001142730.3(KCTD1):c.2379C>A (p.His793Gln)
NM_001142730.3(KCTD1):c.2384C>A (p.Ser795Ter)
NM_001142730.3(KCTD1):c.2387C>T (p.Thr796Met)
NM_001142730.3(KCTD1):c.2392G>A (p.Val798Ile)
NM_001142730.3(KCTD1):c.2440-10_2440-9insA
NM_001142730.3(KCTD1):c.2440-3C>T
NM_001142730.3(KCTD1):c.2495G>A (p.Gly832Glu)
NM_001142730.3(KCTD1):c.2545C>T (p.Arg849Trp)
NM_001142730.3(KCTD1):c.2551C>A (p.Pro851Thr)
NM_001142730.3(KCTD1):c.2561C>T (p.Pro854Leu)

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