ClinVar Miner

List of variants in gene combination LOC130006061, RNASEH2C reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.69C>T (p.Asp23=) rs749020058 0.00005
NM_032193.4(RNASEH2C):c.172+12G>A rs1169841008 0.00002
NM_032193.4(RNASEH2C):c.126C>T (p.Ala42=) rs1324205598 0.00001
NM_032193.4(RNASEH2C):c.172+17G>C rs746988112 0.00001
NM_032193.4(RNASEH2C):c.39C>T (p.Arg13=) rs1335036466 0.00001
NM_032193.4(RNASEH2C):c.78C>T (p.Pro26=) rs1419001598 0.00001
NM_032193.4(RNASEH2C):c.102C>T (p.Cys34=)
NM_032193.4(RNASEH2C):c.117C>T (p.Asp39=) rs2135654177
NM_032193.4(RNASEH2C):c.120G>T (p.Gly40=)
NM_032193.4(RNASEH2C):c.126C>G (p.Ala42=)
NM_032193.4(RNASEH2C):c.129G>A (p.Pro43=)
NM_032193.4(RNASEH2C):c.138C>T (p.Arg46=)
NM_032193.4(RNASEH2C):c.141C>T (p.Phe47=) rs1857359996
NM_032193.4(RNASEH2C):c.147G>T (p.Thr49=)
NM_032193.4(RNASEH2C):c.150C>T (p.Pro50=)
NM_032193.4(RNASEH2C):c.156C>T (p.Ile52=)
NM_032193.4(RNASEH2C):c.159C>T (p.Arg53=) rs2135654018
NM_032193.4(RNASEH2C):c.165C>T (p.Gly55=)
NM_032193.4(RNASEH2C):c.168C>G (p.Pro56=)
NM_032193.4(RNASEH2C):c.172+13G>T
NM_032193.4(RNASEH2C):c.172+14C>A rs1027275130
NM_032193.4(RNASEH2C):c.172+15C>T rs2135653906
NM_032193.4(RNASEH2C):c.172+19C>T
NM_032193.4(RNASEH2C):c.172+7C>T
NM_032193.4(RNASEH2C):c.172+8C>T
NM_032193.4(RNASEH2C):c.36C>T (p.His12=)
NM_032193.4(RNASEH2C):c.39C>G (p.Arg13=)
NM_032193.4(RNASEH2C):c.46T>C (p.Leu16=) rs2135654441
NM_032193.4(RNASEH2C):c.51C>A (p.Arg17=)
NM_032193.4(RNASEH2C):c.57C>A (p.Ala19=)
NM_032193.4(RNASEH2C):c.60A>G (p.Thr20=)
NM_032193.4(RNASEH2C):c.66C>T (p.Arg22=) rs2135654352
NM_032193.4(RNASEH2C):c.72C>A (p.Ala24=)
NM_032193.4(RNASEH2C):c.75A>G (p.Val25=)
NM_032193.4(RNASEH2C):c.78C>G (p.Pro26=)
NM_032193.4(RNASEH2C):c.85C>T (p.Leu29=) rs781290873
NM_032193.4(RNASEH2C):c.94C>T (p.Leu32=)
NM_032193.4(RNASEH2C):c.96G>T (p.Leu32=)

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