ClinVar Miner

List of variants in gene RSRC1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001271838.2(RSRC1):c.205C>T (p.Arg69Ter) rs868818936 0.00003
NM_001271838.2(RSRC1):c.196C>T (p.Arg66Cys) rs772577036 0.00002
NM_001271838.2(RSRC1):c.11G>A (p.Arg4Gln) rs749608883 0.00001
NM_001271838.2(RSRC1):c.268C>T (p.Arg90Ter) rs1183090232
NM_001271838.2(RSRC1):c.332del (p.Arg111fs)
NM_001271838.2(RSRC1):c.3G>T (p.Met1Ile) rs1335486803
NM_001271838.2(RSRC1):c.441_447dup (p.Glu150fs) rs2108279740
NM_001271838.2(RSRC1):c.532-1G>A rs754550509

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