ClinVar Miner

List of variants in gene CDKN1C reported as uncertain significance for Inborn genetic diseases

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala) rs1261515352 0.00022
NM_001122630.2(CDKN1C):c.367G>C (p.Glu123Gln) rs1013695050 0.00016
NM_001122630.2(CDKN1C):c.577C>G (p.Pro193Ala) rs1345683292 0.00006
NM_001122630.2(CDKN1C):c.500T>C (p.Leu167Pro) rs1060500177 0.00005
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val) rs765542916 0.00005
NM_001122630.2(CDKN1C):c.-10-7T>C rs201715947 0.00004
NM_001122630.2(CDKN1C):c.494C>T (p.Ala165Val) rs1383784539 0.00003
NM_001122630.2(CDKN1C):c.497T>C (p.Val166Ala) rs1288020047 0.00003
NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys) rs750526402 0.00002
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg) rs1377428359 0.00002
NM_001122630.2(CDKN1C):c.-8C>T rs1300493378 0.00001
NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val) rs1477196859 0.00001
NM_001122630.2(CDKN1C):c.322C>T (p.Leu108Phe) rs1323156745 0.00001
NM_001122630.2(CDKN1C):c.331G>A (p.Ala111Thr) rs551863674 0.00001
NM_001122630.2(CDKN1C):c.49A>G (p.Ser17Gly) rs1316822895 0.00001
NM_001122630.2(CDKN1C):c.560C>T (p.Pro187Leu) rs2583439 0.00001
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser) rs773881541 0.00001
NM_001122630.2(CDKN1C):c.746A>G (p.Asn249Ser) rs1282204263 0.00001
NM_001122630.2(CDKN1C):c.239A>G (p.Tyr80Cys) rs2494389471
NM_001122630.2(CDKN1C):c.307G>T (p.Ala103Ser)
NM_001122630.2(CDKN1C):c.428T>G (p.Leu143Arg)
NM_001122630.2(CDKN1C):c.438_449del (p.144_145AP[3]) rs1301544231
NM_001122630.2(CDKN1C):c.451C>A (p.Pro151Thr) rs1848950080
NM_001122630.2(CDKN1C):c.472G>A (p.Val158Ile) rs1848947864
NM_001122630.2(CDKN1C):c.476C>A (p.Ala159Glu) rs2494387336
NM_001122630.2(CDKN1C):c.503C>T (p.Ala168Val) rs1848945535
NM_001122630.2(CDKN1C):c.551T>G (p.Val184Gly) rs1261515352
NM_001122630.2(CDKN1C):c.602C>T (p.Pro201Leu) rs1590149394
NM_001122630.2(CDKN1C):c.62G>A (p.Ser21Asn) rs2494390738
NM_001122630.2(CDKN1C):c.664C>T (p.Arg222Cys) rs773932111
NM_001122630.2(CDKN1C):c.665G>A (p.Arg222His)
NM_001122630.2(CDKN1C):c.677C>T (p.Pro226Leu) rs1848923335
NM_001122630.2(CDKN1C):c.712C>T (p.Arg238Cys) rs878853641
NM_001122630.2(CDKN1C):c.796G>A (p.Ala266Thr) rs759474789
NM_001122630.2(CDKN1C):c.86A>G (p.Glu29Gly) rs2494390489

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