ClinVar Miner

List of variants reported as benign for autosomal recessive limb-girdle muscular dystrophy type 2C by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_000231.3(SGCG):c.860= (p.Asn287=) rs1800354 0.16253
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_000231.3(SGCG):c.703-18T>C rs9580603 0.04002
NM_000231.3(SGCG):c.435C>T (p.Asn145=) rs35628352 0.00973
NM_000231.3(SGCG):c.505+15G>A rs144143366 0.00054
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
NM_000231.3(SGCG):c.579-17T>G rs368025607 0.00014
NM_000231.3(SGCG):c.479T>C (p.Val160Ala) rs527562042 0.00002
NM_000231.3(SGCG):c.196-18_196-15del
NM_000231.3(SGCG):c.196-6del rs568365779
NM_000231.3(SGCG):c.196-6dup rs568365779
NM_000231.3(SGCG):c.196-7_196-6del rs568365779
NM_000231.3(SGCG):c.196-8_196-6del
NM_000231.3(SGCG):c.505+22del
NM_000231.3(SGCG):c.506-14dup
NM_000231.3(SGCG):c.578+14T>C
NM_000231.3(SGCG):c.579-20G>T

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