ClinVar Miner

List of variants studied for congenital limb malformation by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) rs202146344 0.00017
NM_033419.5(PGAP3):c.558-10G>A rs200598755 0.00009
NM_033419.5(PGAP3):c.861G>T (p.Trp287Cys) rs869312813 0.00003
NM_000059.4(BRCA2):c.-40+2T>C rs1593879845
NM_000059.4(BRCA2):c.1238del (p.Leu413fs) rs80359271
NM_000135.4(FANCA):c.1165G>T (p.Val389Leu)
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000455.5(STK11):c.554C>T (p.Thr185Ile) rs540627331
NM_001018115.3(FANCD2):c.2606-9A>G
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
NM_001378183.1(PIEZO2):c.5889C>T (p.Gly1963=)
NM_004247.4(EFTUD2):c.1117A>G (p.Ile373Val)
NM_004247.4(EFTUD2):c.423del (p.Lys142fs)
NM_004826.4(ECEL1):c.1672del (p.Val558fs)
NM_020436.5(SALL4):c.3058del (p.Gln1020fs)
NM_033419.5(PGAP3):c.402dup (p.Met135fs) rs869312812
NM_033419.5(PGAP3):c.439dup (p.Leu147fs) rs869312815
NM_033419.5(PGAP3):c.511T>C (p.Cys171Arg) rs869312816
NM_033419.5(PGAP3):c.842T>C (p.Leu281Pro) rs869312817
NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly) rs869312814

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