ClinVar Miner

List of variants studied for arthrogryposis multiplex congenita by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744 0.00011
NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter) rs866050664 0.00002
NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys) rs772396355 0.00002
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg) rs562419268 0.00001
NM_000113.3(TOR1A):c.287_288del (p.Leu96fs)
NM_000113.3(TOR1A):c.486T>A (p.Cys162Ter)
NM_000113.3(TOR1A):c.790_793del (p.Asp264fs)
NM_001031711.3(ERGIC1):c.155+1G>A
NM_001164508.2(NEB):c.11290-1G>A
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs) rs1559296376
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr) rs376984481
NM_001164508.2(NEB):c.4393G>T (p.Asp1465Tyr)
NM_001164508.2(NEB):c.8222_8232del (p.Pro2741fs)
NM_001164508.2(NEB):c.9478G>A (p.Asp3160Asn)
NM_001198800.3(ASCC1):c.380_381del (p.Phe127fs)
NM_001378183.1(PIEZO2):c.1231C>T (p.Pro411Ser)
NM_001378183.1(PIEZO2):c.7604T>C (p.Phe2535Ser)
NM_003334.4(UBA1):c.2897A>C (p.Asn966Thr)
NM_016213.5(TRIP4):c.336_339del (p.Gln113fs) rs1900263561
NM_017988.6(SCYL2):c.598dup (p.Cys200fs)
NM_018684.4(ZC4H2):c.218_220del (p.Ile73del)
NM_018684.4(ZC4H2):c.269T>C (p.Leu90Pro)
NM_018684.4(ZC4H2):c.406G>A (p.Glu136Lys)
NM_018684.4(ZC4H2):c.527C>T (p.Thr176Met)
NM_139284.3(LGI4):c.1259_1266delinsCACACCAG (p.Asp420_Phe422delinsAlaHisGln)
NM_173660.5(DOK7):c.332-1G>C
NM_182961.4(SYNE1):c.4003A>G (p.Ile1335Val)
NM_182961.4(SYNE1):c.4807G>A (p.Glu1603Lys)
NM_182961.4(SYNE1):c.4828A>T (p.Thr1610Ser)
NM_182961.4(SYNE1):c.8861C>A (p.Ser2954Ter)

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