ClinVar Miner

List of variants in gene combination ASIC4, SPEG reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005876.5(SPEG):c.7200C>A (p.Val2400=) rs62191887 0.00942
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe) rs77314619 0.00575
NM_005876.5(SPEG):c.5722A>G (p.Met1908Val) rs200747365 0.00226
NM_005876.5(SPEG):c.9764G>A (p.Arg3255His) rs55821615 0.00098
NM_005876.5(SPEG):c.9033C>T (p.Tyr3011=) rs371546535 0.00080
NM_005876.5(SPEG):c.6987G>A (p.Ser2329=) rs368733695 0.00022
NM_005876.5(SPEG):c.7722G>A (p.Gln2574=) rs370649349 0.00020
NM_005876.5(SPEG):c.7953C>T (p.His2651=) rs374942645 0.00012
NM_005876.5(SPEG):c.8860G>A (p.Gly2954Ser) rs377476081 0.00009
NM_005876.5(SPEG):c.7317G>A (p.Ser2439=) rs1044794035 0.00007
NM_005876.5(SPEG):c.8265G>C (p.Gly2755=) rs376454387 0.00003
NM_005876.5(SPEG):c.9795C>T (p.Gly3265=) rs371349906 0.00001
NM_005876.5(SPEG):c.5931A>C (p.Gly1977=)
NM_005876.5(SPEG):c.6045G>C (p.Ser2015=)
NM_005876.5(SPEG):c.6450G>A (p.Glu2150=)
NM_005876.5(SPEG):c.6695C>G (p.Pro2232Arg) rs201950092
NM_005876.5(SPEG):c.6696C>A (p.Pro2232=)
NM_005876.5(SPEG):c.6906G>A (p.Val2302=)
NM_005876.5(SPEG):c.7200C>T (p.Val2400=) rs62191887
NM_005876.5(SPEG):c.8439A>C (p.Thr2813=)
NM_005876.5(SPEG):c.8475C>A (p.Pro2825=) rs374088448
NM_005876.5(SPEG):c.8598C>A (p.His2866Gln)
NM_005876.5(SPEG):c.8613G>A (p.Glu2871=)
NM_005876.5(SPEG):c.9271C>T (p.Leu3091=)
NM_005876.5(SPEG):c.9276G>C (p.Leu3092=) rs1426493340

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