ClinVar Miner

List of variants studied for Kabuki syndrome 2 by Invitae

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
NM_001291415.1(KDM6A):c.2257_2258TC[4] (p.His754fs) rs1556328781
NM_021140.3(KDM6A):c.1425+1G>T
NM_021140.3(KDM6A):c.2462_2463del (p.Ser821fs) rs1556330304
NM_021140.3(KDM6A):c.2473A>G (p.Thr825Ala)
NM_021140.3(KDM6A):c.2832+1G>A rs1135401809
NM_021140.3(KDM6A):c.2938+2T>C rs1569537333
NM_021140.3(KDM6A):c.3016C>T (p.Gln1006Ter) rs1556341546
NM_021140.3(KDM6A):c.3144+1G>A
NM_021140.3(KDM6A):c.3457T>C (p.Cys1153Arg)
NM_021140.3(KDM6A):c.3458G>A (p.Cys1153Tyr) rs1556350571
NM_021140.3(KDM6A):c.3584C>T (p.Pro1195Leu)
NM_021140.3(KDM6A):c.3714T>C (p.Ala1238=) rs142238688
NM_021140.3(KDM6A):c.3763C>T (p.Arg1255Trp) rs1450363794
NM_021140.3(KDM6A):c.4051C>T (p.Arg1351Ter)

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