ClinVar Miner

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

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_032193.4(RNASEH2C):c.468+13G>A rs182000627 0.00178
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 0.00135
NM_032193.4(RNASEH2C):c.393G>A (p.Leu131=) rs138181714 0.00024
NM_032193.4(RNASEH2C):c.348+18G>A rs372964595 0.00016
NM_032193.4(RNASEH2C):c.349-12C>G rs368723275 0.00008
NM_032193.4(RNASEH2C):c.349-16C>T rs199868316 0.00004
NM_032193.4(RNASEH2C):c.459T>C (p.Leu153=) rs771390677 0.00003
NM_032193.4(RNASEH2C):c.349-6C>T rs774542613 0.00002
NM_032193.4(RNASEH2C):c.173-14G>A rs886048502 0.00001
NM_032193.4(RNASEH2C):c.190C>A (p.Arg64=) rs760270515 0.00001
NM_032193.4(RNASEH2C):c.336G>A (p.Leu112=) rs762686846 0.00001
NM_032193.4(RNASEH2C):c.348+19T>C rs755524049 0.00001
NM_032193.4(RNASEH2C):c.399T>A (p.Gly133=) rs752570194 0.00001
NM_032193.4(RNASEH2C):c.468+16G>A rs1332044735 0.00001
NM_032193.4(RNASEH2C):c.468+17T>C rs777249456 0.00001
NM_032193.4(RNASEH2C):c.468+18T>C rs774537118 0.00001
NM_032193.4(RNASEH2C):c.489G>A (p.Glu163=) rs373524507 0.00001
NM_032193.4(RNASEH2C):c.12C>G (p.Gly4=) rs1857363592
NM_032193.4(RNASEH2C):c.12C>T (p.Gly4=)
NM_032193.4(RNASEH2C):c.15C>T (p.Asp5=)
NM_032193.4(RNASEH2C):c.173-12C>T
NM_032193.4(RNASEH2C):c.173-13C>T rs764665591
NM_032193.4(RNASEH2C):c.173-15C>T
NM_032193.4(RNASEH2C):c.173-4C>T
NM_032193.4(RNASEH2C):c.174A>C (p.Gly58=)
NM_032193.4(RNASEH2C):c.174A>T (p.Gly58=)
NM_032193.4(RNASEH2C):c.186G>A (p.Ser62=)
NM_032193.4(RNASEH2C):c.192G>A (p.Arg64=)
NM_032193.4(RNASEH2C):c.192G>C (p.Arg64=)
NM_032193.4(RNASEH2C):c.192G>T (p.Arg64=)
NM_032193.4(RNASEH2C):c.213G>A (p.Glu71=)
NM_032193.4(RNASEH2C):c.216G>A (p.Glu72=)
NM_032193.4(RNASEH2C):c.21G>A (p.Ala7=)
NM_032193.4(RNASEH2C):c.222G>A (p.Ala74=) rs1365307674
NM_032193.4(RNASEH2C):c.222G>T (p.Ala74=)
NM_032193.4(RNASEH2C):c.237C>G (p.Leu79=)
NM_032193.4(RNASEH2C):c.243A>T (p.Gly81=) rs2135653152
NM_032193.4(RNASEH2C):c.246C>T (p.Tyr82=)
NM_032193.4(RNASEH2C):c.24C>T (p.Ala8=)
NM_032193.4(RNASEH2C):c.255G>A (p.Val85=)
NM_032193.4(RNASEH2C):c.258A>G (p.Thr86=)
NM_032193.4(RNASEH2C):c.258A>T (p.Thr86=) rs2135653109
NM_032193.4(RNASEH2C):c.261A>G (p.Glu87=) rs1857351791
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del) rs141875736
NM_032193.4(RNASEH2C):c.267G>A (p.Lys89=)
NM_032193.4(RNASEH2C):c.27C>T (p.Ile9=)
NM_032193.4(RNASEH2C):c.294C>T (p.Pro98=)
NM_032193.4(RNASEH2C):c.295T>C (p.Leu99=)
NM_032193.4(RNASEH2C):c.306C>T (p.Ser102=)
NM_032193.4(RNASEH2C):c.309G>A (p.Gly103=)
NM_032193.4(RNASEH2C):c.309G>C (p.Gly103=)
NM_032193.4(RNASEH2C):c.315C>T (p.Asp105=)
NM_032193.4(RNASEH2C):c.324G>A (p.Glu108=)
NM_032193.4(RNASEH2C):c.333G>A (p.Pro111=)
NM_032193.4(RNASEH2C):c.334C>T (p.Leu112=)
NM_032193.4(RNASEH2C):c.33G>A (p.Arg11=) rs2135654495
NM_032193.4(RNASEH2C):c.340C>A (p.Arg114=)
NM_032193.4(RNASEH2C):c.342G>A (p.Arg114=)
NM_032193.4(RNASEH2C):c.348+10G>A rs2135652770
NM_032193.4(RNASEH2C):c.348+10G>C
NM_032193.4(RNASEH2C):c.348+11G>A rs376075138
NM_032193.4(RNASEH2C):c.348+11G>C
NM_032193.4(RNASEH2C):c.348+12G>A
NM_032193.4(RNASEH2C):c.348+12G>C
NM_032193.4(RNASEH2C):c.348+17G>A rs1857349059
NM_032193.4(RNASEH2C):c.348+17G>C
NM_032193.4(RNASEH2C):c.348+19T>G
NM_032193.4(RNASEH2C):c.348+7A>G
NM_032193.4(RNASEH2C):c.348+7A>T
NM_032193.4(RNASEH2C):c.349-10C>T
NM_032193.4(RNASEH2C):c.349-12C>A
NM_032193.4(RNASEH2C):c.349-12C>T rs368723275
NM_032193.4(RNASEH2C):c.349-13G>A
NM_032193.4(RNASEH2C):c.349-14G>C
NM_032193.4(RNASEH2C):c.349-18G>A
NM_032193.4(RNASEH2C):c.349-8T>G
NM_032193.4(RNASEH2C):c.349-9C>G rs535966679
NM_032193.4(RNASEH2C):c.349-9C>T rs535966679
NM_032193.4(RNASEH2C):c.357C>T (p.Phe119=)
NM_032193.4(RNASEH2C):c.369T>C (p.Thr123=)
NM_032193.4(RNASEH2C):c.372C>G (p.Ala124=) rs1857346736
NM_032193.4(RNASEH2C):c.381C>T (p.Ser127=)
NM_032193.4(RNASEH2C):c.391C>T (p.Leu131=) rs1393994911
NM_032193.4(RNASEH2C):c.393G>T (p.Leu131=)
NM_032193.4(RNASEH2C):c.402G>A (p.Leu134=)
NM_032193.4(RNASEH2C):c.405G>A (p.Glu135=)
NM_032193.4(RNASEH2C):c.420G>T (p.Pro140=)
NM_032193.4(RNASEH2C):c.426C>T (p.Ala142=) rs753557040
NM_032193.4(RNASEH2C):c.435T>C (p.Arg145=)
NM_032193.4(RNASEH2C):c.438G>A (p.Gly146=)
NM_032193.4(RNASEH2C):c.441C>G (p.Ala147=) rs1857344657
NM_032193.4(RNASEH2C):c.447T>C (p.Thr149=)
NM_032193.4(RNASEH2C):c.468+10C>G
NM_032193.4(RNASEH2C):c.468+11G>A
NM_032193.4(RNASEH2C):c.468+12_468+13del rs765857630
NM_032193.4(RNASEH2C):c.468+13G>C rs182000627
NM_032193.4(RNASEH2C):c.468+14G>A rs759952065
NM_032193.4(RNASEH2C):c.468+14G>T
NM_032193.4(RNASEH2C):c.468+15_468+22del
NM_032193.4(RNASEH2C):c.468+20C>T
NM_032193.4(RNASEH2C):c.468+20del
NM_032193.4(RNASEH2C):c.468+7A>G
NM_032193.4(RNASEH2C):c.468+8G>A rs751767695
NM_032193.4(RNASEH2C):c.468+8G>C rs751767695
NM_032193.4(RNASEH2C):c.469-11T>G
NM_032193.4(RNASEH2C):c.469-12C>A rs764404552
NM_032193.4(RNASEH2C):c.469-12C>G rs764404552
NM_032193.4(RNASEH2C):c.469-14G>T
NM_032193.4(RNASEH2C):c.469-15C>T
NM_032193.4(RNASEH2C):c.469-17G>A
NM_032193.4(RNASEH2C):c.469-19G>A rs2135651382
NM_032193.4(RNASEH2C):c.469-7G>T rs1857335838
NM_032193.4(RNASEH2C):c.469-9C>G
NM_032193.4(RNASEH2C):c.469-9C>T
NM_032193.4(RNASEH2C):c.474C>T (p.His158=)
NM_032193.4(RNASEH2C):c.483G>A (p.Val161=)
NM_032193.4(RNASEH2C):c.486C>T (p.Pro162=)
NM_032193.4(RNASEH2C):c.6G>A (p.Glu2=)
NM_032193.4(RNASEH2C):c.9C>T (p.Ser3=)

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