ClinVar Miner

List of variants reported as likely benign for Pontocerebellar hypoplasia type 1B

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.*881A>G rs143319153 0.00332
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_016042.4(EXOSC3):c.*64C>T rs142727320 0.00209
NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val) rs62640004 0.00177
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly) rs114878910 0.00125
NM_016042.4(EXOSC3):c.588T>C (p.Asp196=) rs147568068 0.00068
NM_016042.4(EXOSC3):c.219C>A (p.Arg73=) rs149583035 0.00061
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) rs138085418 0.00047
NM_016042.4(EXOSC3):c.123C>T (p.Asp41=) rs147510873 0.00043
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) rs147135294 0.00038
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) rs145677716 0.00038
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_016042.4(EXOSC3):c.24G>T (p.Ala8=) rs755145404 0.00004
NM_016042.4(EXOSC3):c.324+15C>T rs775818894 0.00002
NM_016042.4(EXOSC3):c.783G>A (p.Thr261=) rs376325566 0.00002
NM_016042.4(EXOSC3):c.325-6T>C rs375827861 0.00001
NM_016042.4(EXOSC3):c.336A>G (p.Val112=) rs1459576809 0.00001
NM_016042.4(EXOSC3):c.405G>T (p.Gly135=) rs1828647334 0.00001
NM_016042.4(EXOSC3):c.813A>G (p.Arg271=) rs373942170 0.00001
NM_016042.4(EXOSC3):c.100C>T (p.Leu34=)
NM_016042.4(EXOSC3):c.105C>T (p.Leu35=)
NM_016042.4(EXOSC3):c.126G>T (p.Ala42=)
NM_016042.4(EXOSC3):c.150G>A (p.Glu50=)
NM_016042.4(EXOSC3):c.156G>A (p.Pro52=)
NM_016042.4(EXOSC3):c.15G>T (p.Ala5=)
NM_016042.4(EXOSC3):c.171T>C (p.Ala57=) rs1589061382
NM_016042.4(EXOSC3):c.201C>T (p.Cys67=)
NM_016042.4(EXOSC3):c.21C>A (p.Val7=)
NM_016042.4(EXOSC3):c.21C>G (p.Val7=)
NM_016042.4(EXOSC3):c.231C>T (p.Arg77=)
NM_016042.4(EXOSC3):c.234G>C (p.Leu78=)
NM_016042.4(EXOSC3):c.234G>T (p.Leu78=)
NM_016042.4(EXOSC3):c.240C>T (p.Val80=)
NM_016042.4(EXOSC3):c.246G>A (p.Lys82=)
NM_016042.4(EXOSC3):c.249C>T (p.Cys83=)
NM_016042.4(EXOSC3):c.258C>T (p.Leu86=)
NM_016042.4(EXOSC3):c.261T>A (p.Arg87=) rs1294998925
NM_016042.4(EXOSC3):c.264C>T (p.His88=)
NM_016042.4(EXOSC3):c.276C>T (p.Gly92=)
NM_016042.4(EXOSC3):c.279T>C (p.Ser93=)
NM_016042.4(EXOSC3):c.27T>C (p.Ala9=)
NM_016042.4(EXOSC3):c.288C>T (p.Gly96=)
NM_016042.4(EXOSC3):c.300C>T (p.Tyr100=)
NM_016042.4(EXOSC3):c.309C>T (p.Asp103=)
NM_016042.4(EXOSC3):c.321G>A (p.Lys107=)
NM_016042.4(EXOSC3):c.324+9G>T
NM_016042.4(EXOSC3):c.325-10C>G
NM_016042.4(EXOSC3):c.325-20C>T
NM_016042.4(EXOSC3):c.366A>C (p.Thr122=)
NM_016042.4(EXOSC3):c.36C>T (p.Leu12=)
NM_016042.4(EXOSC3):c.396T>C (p.Asp132=)
NM_016042.4(EXOSC3):c.414A>G (p.Pro138=)
NM_016042.4(EXOSC3):c.417T>C (p.Ala139=)
NM_016042.4(EXOSC3):c.421T>C (p.Leu141=)
NM_016042.4(EXOSC3):c.423G>A (p.Leu141=)
NM_016042.4(EXOSC3):c.429C>T (p.Tyr143=)
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) rs1828679645
NM_016042.4(EXOSC3):c.441A>G (p.Glu147=)
NM_016042.4(EXOSC3):c.444T>C (p.Gly148=)
NM_016042.4(EXOSC3):c.46A>C (p.Arg16=)
NM_016042.4(EXOSC3):c.474+11G>C
NM_016042.4(EXOSC3):c.474+11del
NM_016042.4(EXOSC3):c.474+13G>A
NM_016042.4(EXOSC3):c.474+14C>T
NM_016042.4(EXOSC3):c.474+15C>T
NM_016042.4(EXOSC3):c.474+16T>C
NM_016042.4(EXOSC3):c.474+8C>T
NM_016042.4(EXOSC3):c.474+9G>A
NM_016042.4(EXOSC3):c.475-15T>A
NM_016042.4(EXOSC3):c.475-6T>C
NM_016042.4(EXOSC3):c.475-8_475-6del
NM_016042.4(EXOSC3):c.475-8del
NM_016042.4(EXOSC3):c.51G>C (p.Ala17=)
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)
NM_016042.4(EXOSC3):c.537C>T (p.Val179=)
NM_016042.4(EXOSC3):c.546C>T (p.Asp182=)
NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)
NM_016042.4(EXOSC3):c.579T>C (p.Ile193=)
NM_016042.4(EXOSC3):c.57T>C (p.Ala19=)
NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)
NM_016042.4(EXOSC3):c.591T>G (p.Gly197=) rs753935327
NM_016042.4(EXOSC3):c.592C>T (p.Leu198=)
NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)
NM_016042.4(EXOSC3):c.594G>C (p.Leu198=)
NM_016042.4(EXOSC3):c.60A>G (p.Ala20=)
NM_016042.4(EXOSC3):c.615C>T (p.Gly205=)
NM_016042.4(EXOSC3):c.626+11A>G
NM_016042.4(EXOSC3):c.626+15C>G
NM_016042.4(EXOSC3):c.627-12_627-8del rs778480656
NM_016042.4(EXOSC3):c.627-16_627-12del
NM_016042.4(EXOSC3):c.627-18C>A
NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)
NM_016042.4(EXOSC3):c.63C>G (p.Arg21=)
NM_016042.4(EXOSC3):c.63C>T (p.Arg21=)
NM_016042.4(EXOSC3):c.642T>C (p.Asp214=)
NM_016042.4(EXOSC3):c.663G>A (p.Val221=)
NM_016042.4(EXOSC3):c.66A>C (p.Thr22=)
NM_016042.4(EXOSC3):c.66A>G (p.Thr22=)
NM_016042.4(EXOSC3):c.675T>C (p.Tyr225=)
NM_016042.4(EXOSC3):c.684G>A (p.Glu228=)
NM_016042.4(EXOSC3):c.69A>G (p.Val23=)
NM_016042.4(EXOSC3):c.6C>A (p.Ala2=)
NM_016042.4(EXOSC3):c.6C>G (p.Ala2=)
NM_016042.4(EXOSC3):c.6C>T (p.Ala2=)
NM_016042.4(EXOSC3):c.702T>C (p.Asn234=)
NM_016042.4(EXOSC3):c.70C>T (p.Leu24=)
NM_016042.4(EXOSC3):c.741T>C (p.Thr247=)
NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)
NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)
NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)
NM_016042.4(EXOSC3):c.81G>C (p.Val27=)
NM_016042.4(EXOSC3):c.825T>C (p.Ser275=)

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