ClinVar Miner

List of variants reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359 0.00624
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810 0.00023
NM_014727.3(KMT2B):c.7060G>A (p.Glu2354Lys) rs190929421 0.00022
NM_005334.3(HCFC1):c.4086C>T (p.Thr1362=) rs1388599232 0.00002
NM_003482.4(KMT2D):c.13715A>G (p.Asn4572Ser) rs777292389 0.00001
NM_003482.4(KMT2D):c.185C>T (p.Pro62Leu) rs371342351 0.00001
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn) rs748590759 0.00001
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) rs748986705
NM_005445.4(SMC3):c.371T>G (p.Leu124Arg) rs1590553017
NM_016277.5(RAB23):c.416T>C (p.Leu139Pro) rs1593208594
NM_020923.3(ZDBF2):c.6248_6249dup (p.Asn2084fs) rs879255650
NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg) rs1580399961

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