ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_001272071.2(AP1S2):c.-1+1G>A rs1934288587
NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp) rs1555696603
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_013275.6(ANKRD11):c.4140_4141del (p.Tyr1380_Lys1381delinsTer)
NM_078480.3(PUF60):c.1459T>C (p.Cys487Arg) rs2130205866
NM_078480.3(PUF60):c.672dup (p.Phe225fs) rs2130247180
NM_078480.3(PUF60):c.848_849del (p.Ala283fs) rs2130242336

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