ClinVar Miner

List of variants in gene CHSY1 reported as benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg) rs74752435
NM_014918.5(CHSY1):c.1075C>T (p.Pro359Ser)
NM_014918.5(CHSY1):c.114C>T (p.Gly38=) rs773533401
NM_014918.5(CHSY1):c.1176C>T (p.Pro392=) rs147287474
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=) rs113219895
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=) rs2005180
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=) rs76457230
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=) rs145002451
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=) rs74784454
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=) rs146586939
NM_014918.5(CHSY1):c.1701C>T (p.Leu567=) rs192677621
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=) rs151237975
NM_014918.5(CHSY1):c.1763G>C (p.Arg588Thr)
NM_014918.5(CHSY1):c.1812G>A (p.Val604=) rs3803422
NM_014918.5(CHSY1):c.1896C>T (p.Val632=) rs3803423
NM_014918.5(CHSY1):c.1905G>C (p.Val635=) rs28364839
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=) rs150245745
NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln)
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=) rs8024370
NM_014918.5(CHSY1):c.303G>C (p.Arg101=) rs7176149
NM_014918.5(CHSY1):c.320+6C>T
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449
NM_014918.5(CHSY1):c.39G>A (p.Leu13=) rs764100516
NM_014918.5(CHSY1):c.423C>T (p.Asp141=) rs115447262
NM_014918.5(CHSY1):c.534A>G (p.Gly178=) rs3743192
NM_014918.5(CHSY1):c.573C>T (p.Ser191=)
NM_014918.5(CHSY1):c.57C>T (p.Gly19=) rs7175303
NM_014918.5(CHSY1):c.666G>A (p.Gly222=) rs74545602

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