ClinVar Miner

List of variants studied for autosomal dominant prognathism

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala) rs202228620 0.00005
NM_015701.5(ERLEC1):c.1448A>G (p.Asn483Ser) rs146951835 0.00005
NM_021008.4(DEAF1):c.667G>A (p.Gly223Ser) rs1057518811 0.00003
46;XY;t(18;20)(q21.1;p11.23)dn
46;XY;t(3;17)(p14.3;q24.3)dn
GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) rs1554169984
NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)
NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr) rs1373789245
NM_015701.5(ERLEC1):c.419C>G (p.Thr140Ser) rs751933066
NM_015701.5(ERLEC1):c.419C>T (p.Thr140Ile) rs751933066
Single allele

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