ClinVar Miner

List of variants reported as uncertain significance for Urinary bladder, atony of; SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000743.5(CHRNA3):c.1169G>C (p.Gly390Ala) rs147763776 0.00017
NM_000743.5(CHRNA3):c.1430G>A (p.Arg477His) rs201426786 0.00003
NM_000743.5(CHRNA3):c.867G>A (p.Val289=) rs755771457 0.00003
NM_000743.5(CHRNA3):c.1001C>A (p.Thr334Lys) rs79115483 0.00002
NM_000743.5(CHRNA3):c.1478G>C (p.Gly493Ala) rs201438830 0.00002
NM_000743.5(CHRNA3):c.1057G>A (p.Val353Ile) rs968965351 0.00001
NM_000743.5(CHRNA3):c.688G>A (p.Asp230Asn) rs777582527 0.00001
NM_000743.5(CHRNA3):c.1014G>T (p.Met338Ile)
NM_000743.5(CHRNA3):c.1075C>T (p.Pro359Ser)
NM_000743.5(CHRNA3):c.1106C>T (p.Pro369Leu)
NM_000743.5(CHRNA3):c.110G>C (p.Arg37Pro)
NM_000743.5(CHRNA3):c.1121G>A (p.Gly374Asp)
NM_000743.5(CHRNA3):c.1138C>G (p.Leu380Val)
NM_000743.5(CHRNA3):c.1153C>T (p.Arg385Cys)
NM_000743.5(CHRNA3):c.1156G>A (p.Ala386Thr)
NM_000743.5(CHRNA3):c.1198G>A (p.Gly400Arg)
NM_000743.5(CHRNA3):c.1211A>G (p.Tyr404Cys)
NM_000743.5(CHRNA3):c.1222C>T (p.Arg408Cys)
NM_000743.5(CHRNA3):c.1226G>A (p.Arg409Lys)
NM_000743.5(CHRNA3):c.1355C>T (p.Ala452Val)
NM_000743.5(CHRNA3):c.1370C>T (p.Ala457Val)
NM_000743.5(CHRNA3):c.1381G>A (p.Ala461Thr)
NM_000743.5(CHRNA3):c.1403G>T (p.Trp468Leu)
NM_000743.5(CHRNA3):c.1462A>C (p.Ile488Leu)
NM_000743.5(CHRNA3):c.1465C>A (p.Leu489Ile)
NM_000743.5(CHRNA3):c.146T>A (p.Ile49Asn)
NM_000743.5(CHRNA3):c.1475C>T (p.Ala492Val)
NM_000743.5(CHRNA3):c.1493C>T (p.Pro498Leu) rs2141319077
NM_000743.5(CHRNA3):c.1495del (p.Pro498_Leu499insTer) rs759986717
NM_000743.5(CHRNA3):c.179T>C (p.Val60Ala)
NM_000743.5(CHRNA3):c.200C>T (p.Ser67Phe)
NM_000743.5(CHRNA3):c.218A>G (p.Lys73Arg)
NM_000743.5(CHRNA3):c.228A>G (p.Glu76=)
NM_000743.5(CHRNA3):c.262A>G (p.Lys88Glu)
NM_000743.5(CHRNA3):c.267+3_267+6del
NM_000743.5(CHRNA3):c.268-19C>G
NM_000743.5(CHRNA3):c.268-19C>T
NM_000743.5(CHRNA3):c.275A>G (p.Asn92Ser)
NM_000743.5(CHRNA3):c.377+10dup
NM_000743.5(CHRNA3):c.402C>T (p.Asp134=)
NM_000743.5(CHRNA3):c.405C>G (p.Asp135Glu)
NM_000743.5(CHRNA3):c.455C>T (p.Pro152Leu)
NM_000743.5(CHRNA3):c.473C>T (p.Ser158Phe)
NM_000743.5(CHRNA3):c.537C>G (p.Ser179=)
NM_000743.5(CHRNA3):c.547G>A (p.Asp183Asn)
NM_000743.5(CHRNA3):c.552G>T (p.Lys184Asn)
NM_000743.5(CHRNA3):c.560T>C (p.Ile187Thr)
NM_000743.5(CHRNA3):c.578G>A (p.Gly193Asp)
NM_000743.5(CHRNA3):c.584C>T (p.Ser195Phe)
NM_000743.5(CHRNA3):c.635C>T (p.Ala212Val)
NM_000743.5(CHRNA3):c.648A>C (p.Lys216Asn)
NM_000743.5(CHRNA3):c.713G>A (p.Arg238Gln)
NM_000743.5(CHRNA3):c.749T>A (p.Ile250Asn)
NM_000743.5(CHRNA3):c.808G>A (p.Gly270Ser)
NM_000743.5(CHRNA3):c.851C>T (p.Thr284Met)
NM_000743.5(CHRNA3):c.959T>C (p.Val320Ala)
NM_000743.5(CHRNA3):c.97G>A (p.Glu33Lys)
NM_000743.5(CHRNA3):c.980A>G (p.Asn327Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.