ClinVar Miner

List of variants reported as benign for autosomal recessive disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.59561
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076

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