ClinVar Miner

List of variants in gene POLR1C studied for auditory system disease

Included ClinVar conditions (549):
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_203290.4(POLR1C):c.*105G>C
NM_203290.4(POLR1C):c.*166C>T
NM_203290.4(POLR1C):c.*30T>C rs185499373
NM_203290.4(POLR1C):c.-15G>A
NM_203290.4(POLR1C):c.-21A>G rs190872536
NM_203290.4(POLR1C):c.-4G>A rs2231756
NM_203290.4(POLR1C):c.-8G>A
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029
NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter) rs886061427
NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys) rs1255115751
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) rs796052127
NM_203290.4(POLR1C):c.34A>G (p.Ser12Gly)
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502
NM_203290.4(POLR1C):c.374G>A (p.Arg125Gln)
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) rs201320592
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys) rs148385032
NM_203290.4(POLR1C):c.443G>A (p.Arg148Gln) rs144195949
NM_203290.4(POLR1C):c.480C>T (p.Asn160=)
NM_203290.4(POLR1C):c.489C>T (p.Tyr163=) rs187997427
NM_203290.4(POLR1C):c.490G>A (p.Val164Met)
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) rs780663139
NM_203290.4(POLR1C):c.561G>A (p.Glu187=) rs145813943
NM_203290.4(POLR1C):c.585T>C (p.Asp195=)
NM_203290.4(POLR1C):c.598G>A (p.Ala200Thr) rs148979835
NM_203290.4(POLR1C):c.608G>A (p.Arg203Gln)
NM_203290.4(POLR1C):c.616del (p.Gln206fs) rs1156407486
NM_203290.4(POLR1C):c.634A>G (p.Met212Val) rs79222964
NM_203290.4(POLR1C):c.639C>G (p.His213Gln)
NM_203290.4(POLR1C):c.656-9C>T rs113383614
NM_203290.4(POLR1C):c.70-7G>C rs886061425
NM_203290.4(POLR1C):c.70G>A (p.Val24Ile)
NM_203290.4(POLR1C):c.771C>T (p.Phe257=) rs776376952
NM_203290.4(POLR1C):c.809A>T (p.Lys270Ile) rs745835548
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) rs141156009
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_203290.4(POLR1C):c.845C>G (p.Thr282Ser)
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455
NM_203290.4(POLR1C):c.913C>A (p.His305Asn) rs886061428
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met) rs181576159
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) rs387907020
POLR1C, 1-BP DEL, 87T
POLR1C, IVS8, 4-BP DEL, +3

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