ClinVar Miner

List of variants in gene HGSNAT studied for Retinitis pigmentosa 73

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99080
NM_152419.3(HGSNAT):c.371+82C>T rs10958738 0.72852
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys) rs369292480 0.00011
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894 0.00001
NM_152419.3(HGSNAT):c.493+5G>A rs781408761 0.00001
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu) rs372933126 0.00001
NM_152419.3(HGSNAT):c.1252G>C (p.Gly418Arg) rs1447139472
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=) rs2130807297
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs) rs1804565177
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys) rs777276988
NM_152419.3(HGSNAT):c.1543-2A>C rs1804769861
NM_152419.3(HGSNAT):c.1708del (p.Thr570fs) rs1804782152
NM_152419.3(HGSNAT):c.235-9T>G rs913764481
NM_152419.3(HGSNAT):c.272del (p.Pro91fs) rs1803166641
NM_152419.3(HGSNAT):c.398G>C (p.Gly133Ala) rs797045120
NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala) rs1324238938
NM_152419.3(HGSNAT):c.951G>C (p.Arg317Ser) rs2130766469

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