ClinVar Miner

List of variants reported as uncertain significance for Nance-Horan syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe) rs374462247 0.00020
NM_001291867.2(NHS):c.152C>T (p.Ala51Val) rs727504039 0.00005
NM_001291867.2(NHS):c.3515C>T (p.Thr1172Met) rs149099378 0.00005
NM_001291867.2(NHS):c.3479C>T (p.Thr1160Ile) rs752248694 0.00004
NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp) rs746433521 0.00002
NM_001291867.2(NHS):c.484C>T (p.Arg162Cys) rs745648326 0.00002
NM_001291867.2(NHS):c.503A>G (p.Gln168Arg) rs769860109 0.00002
NM_001291867.2(NHS):c.691C>T (p.Arg231Trp) rs749420963 0.00001
NM_001291867.2(NHS):c.692G>A (p.Arg231Gln) rs757440505 0.00001
NC_000023.10:g.(?_17393881)_(17710608_?)dup
NC_000023.10:g.(?_17393881)_(20284750_?)dup
NM_001291867.2(NHS):c.100C>A (p.Pro34Thr)
NM_001291867.2(NHS):c.106C>T (p.Pro36Ser)
NM_001291867.2(NHS):c.1074G>A (p.Val358=) rs2066406785
NM_001291867.2(NHS):c.1108+3A>T
NM_001291867.2(NHS):c.1108G>A (p.Gly370Arg) rs727504041
NM_001291867.2(NHS):c.1150G>A (p.Val384Ile)
NM_001291867.2(NHS):c.1160A>G (p.Gln387Arg) rs2147140956
NM_001291867.2(NHS):c.1208C>T (p.Ser403Leu)
NM_001291867.2(NHS):c.1301C>A (p.Pro434His)
NM_001291867.2(NHS):c.136C>G (p.Leu46Val)
NM_001291867.2(NHS):c.1441G>A (p.Gly481Ser)
NM_001291867.2(NHS):c.1466A>G (p.Lys489Arg)
NM_001291867.2(NHS):c.1502G>A (p.Arg501His)
NM_001291867.2(NHS):c.1517G>A (p.Ser506Asn)
NM_001291867.2(NHS):c.1532G>T (p.Gly511Val)
NM_001291867.2(NHS):c.1543G>A (p.Gly515Arg)
NM_001291867.2(NHS):c.1574C>G (p.Pro525Arg)
NM_001291867.2(NHS):c.1674G>C (p.Gln558His)
NM_001291867.2(NHS):c.1691C>T (p.Ala564Val)
NM_001291867.2(NHS):c.1732G>A (p.Glu578Lys)
NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln) rs797045739
NM_001291867.2(NHS):c.1793C>T (p.Ser598Phe)
NM_001291867.2(NHS):c.1843G>A (p.Val615Ile)
NM_001291867.2(NHS):c.1895G>C (p.Gly632Ala)
NM_001291867.2(NHS):c.1903A>G (p.Ser635Gly)
NM_001291867.2(NHS):c.1994C>T (p.Ser665Leu)
NM_001291867.2(NHS):c.1997A>G (p.Glu666Gly)
NM_001291867.2(NHS):c.2131G>C (p.Asp711His)
NM_001291867.2(NHS):c.2188C>T (p.His730Tyr)
NM_001291867.2(NHS):c.2297C>T (p.Ser766Phe)
NM_001291867.2(NHS):c.2371G>T (p.Asp791Tyr)
NM_001291867.2(NHS):c.2512C>T (p.Pro838Ser)
NM_001291867.2(NHS):c.2546C>T (p.Pro849Leu)
NM_001291867.2(NHS):c.2573T>C (p.Leu858Ser)
NM_001291867.2(NHS):c.2669T>C (p.Leu890Pro)
NM_001291867.2(NHS):c.2714A>G (p.Asn905Ser)
NM_001291867.2(NHS):c.2723C>T (p.Thr908Ile)
NM_001291867.2(NHS):c.2806A>G (p.Lys936Glu)
NM_001291867.2(NHS):c.2821G>A (p.Glu941Lys)
NM_001291867.2(NHS):c.302A>C (p.Glu101Ala)
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) rs398124607
NM_001291867.2(NHS):c.309_350del (p.Pro104_Ala117del) rs1382204112
NM_001291867.2(NHS):c.3151A>C (p.Lys1051Gln)
NM_001291867.2(NHS):c.3274_3276dup (p.Ser1092_Ala1093insSer)
NM_001291867.2(NHS):c.3313C>T (p.Arg1105Cys)
NM_001291867.2(NHS):c.333GGC[5] (p.Ala117del) rs587780401
NM_001291867.2(NHS):c.333GGC[8] (p.Ala117_Val118insAlaAla)
NM_001291867.2(NHS):c.3385C>G (p.Pro1129Ala)
NM_001291867.2(NHS):c.3386C>A (p.Pro1129Gln)
NM_001291867.2(NHS):c.3397A>G (p.Ile1133Val)
NM_001291867.2(NHS):c.3505A>C (p.Thr1169Pro)
NM_001291867.2(NHS):c.3532A>G (p.Ser1178Gly)
NM_001291867.2(NHS):c.3611_3612delinsGA (p.Asp1204Gly)
NM_001291867.2(NHS):c.3628A>G (p.Met1210Val)
NM_001291867.2(NHS):c.3689A>G (p.Asp1230Gly)
NM_001291867.2(NHS):c.3745G>A (p.Asp1249Asn)
NM_001291867.2(NHS):c.3827G>A (p.Arg1276Lys)
NM_001291867.2(NHS):c.3842G>A (p.Arg1281His)
NM_001291867.2(NHS):c.4031T>G (p.Phe1344Cys)
NM_001291867.2(NHS):c.410G>C (p.Arg137Pro)
NM_001291867.2(NHS):c.4118G>A (p.Cys1373Tyr)
NM_001291867.2(NHS):c.4121C>G (p.Ser1374Cys)
NM_001291867.2(NHS):c.4186G>A (p.Glu1396Lys)
NM_001291867.2(NHS):c.424G>C (p.Val142Leu)
NM_001291867.2(NHS):c.4417C>A (p.Pro1473Thr)
NM_001291867.2(NHS):c.4429AGC[3] (p.Ser1480del)
NM_001291867.2(NHS):c.4513C>T (p.Arg1505Ter)
NM_001291867.2(NHS):c.4540A>G (p.Asn1514Asp)
NM_001291867.2(NHS):c.4582T>C (p.Ser1528Pro) rs2066491321
NM_001291867.2(NHS):c.4637C>A (p.Pro1546His)
NM_001291867.2(NHS):c.4699T>C (p.Ser1567Pro)
NM_001291867.2(NHS):c.4780G>A (p.Ala1594Thr)
NM_001291867.2(NHS):c.4882G>A (p.Ala1628Thr) rs2066494567
NM_001291867.2(NHS):c.490G>A (p.Val164Ile)
NM_001291867.2(NHS):c.517G>A (p.Gly173Ser)
NM_001291867.2(NHS):c.554A>G (p.Gln185Arg)
NM_001291867.2(NHS):c.565+5G>A rs1064795101
NM_001291867.2(NHS):c.608A>G (p.Tyr203Cys)
NM_001291867.2(NHS):c.611G>A (p.Arg204His)
NM_001291867.2(NHS):c.613G>A (p.Ala205Thr)
NM_001291867.2(NHS):c.719-3C>T
NM_001291867.2(NHS):c.719-9C>G
NM_001291867.2(NHS):c.736G>T (p.Asp246Tyr)
NM_001291867.2(NHS):c.779C>T (p.Ala260Val) rs1254733025
NM_001291867.2(NHS):c.824G>A (p.Arg275His)
NM_001291867.2(NHS):c.844T>G (p.Phe282Val)
NM_001291867.2(NHS):c.86G>T (p.Gly29Val)
NM_001291867.2(NHS):c.965C>T (p.Pro322Leu)
NM_001291867.2(NHS):c.976A>G (p.Ile326Val)

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