ClinVar Miner

List of variants in gene SGCB reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.244-21T>C rs225170 0.43577
NM_000232.5(SGCB):c.243+6T>A rs146888744 0.00026
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000232.5(SGCB):c.430-5del rs762831481
NM_000232.5(SGCB):c.430-5dup rs762831481
NM_000232.5(SGCB):c.622-11del
NM_000232.5(SGCB):c.753+10_753+12del rs138604476

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