ClinVar Miner

List of variants in gene HPS6 studied for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP
NM_024747.5(HPS6):c.*178T>G rs3816
NM_024747.5(HPS6):c.1039G>A (p.Val347Ile) rs139517839
NM_024747.5(HPS6):c.105T>C (p.Arg35=) rs573488604
NM_024747.5(HPS6):c.1060C>T (p.His354Tyr) rs149692177
NM_024747.5(HPS6):c.1065dup (p.Leu356fs) rs1564899492
NM_024747.5(HPS6):c.112C>G (p.Pro38Ala) rs746813506
NM_024747.5(HPS6):c.1181T>C (p.Val394Ala) rs146521433
NM_024747.5(HPS6):c.1201G>A (p.Asp401Asn) rs886046651
NM_024747.5(HPS6):c.1234C>T (p.Gln412Ter) rs281865112
NM_024747.5(HPS6):c.138G>A (p.Leu46=) rs886046648
NM_024747.5(HPS6):c.1498G>A (p.Gly500Arg)
NM_024747.5(HPS6):c.155del (p.Val52fs)
NM_024747.5(HPS6):c.1606A>G (p.Arg536Gly) rs757589760
NM_024747.5(HPS6):c.1624del (p.Asp542fs)
NM_024747.5(HPS6):c.1649del (p.Gly550fs)
NM_024747.5(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.5(HPS6):c.1714_1717del (p.Leu572fs) rs281865113
NM_024747.5(HPS6):c.1764G>A (p.Gln588=) rs145597717
NM_024747.5(HPS6):c.1779G>A (p.Pro593=) rs77529785
NM_024747.5(HPS6):c.1865_1866del (p.Leu622fs) rs281865114
NM_024747.5(HPS6):c.1898del (p.Pro633fs) rs1131692332
NM_024747.5(HPS6):c.194C>G (p.Ala65Gly) rs886046649
NM_024747.5(HPS6):c.19_20delCT
NM_024747.5(HPS6):c.2038C>T (p.Gln680Ter) rs1131692333
NM_024747.5(HPS6):c.2181A>G (p.Ala727=) rs199518658
NM_024747.5(HPS6):c.2231G>T (p.Gly744Val) rs770148492
NM_024747.5(HPS6):c.223C>T (p.Gln75Ter) rs281865107
NM_024747.5(HPS6):c.2307G>A (p.Pro769=) rs553794194
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024747.5(HPS6):c.298C>T (p.Leu100=) rs886046650
NM_024747.5(HPS6):c.337C>T (p.Arg113Trp) rs371307947
NM_024747.5(HPS6):c.398C>T (p.Ala133Val) rs199816481
NM_024747.5(HPS6):c.444C>G (p.Ala148=) rs533784966
NM_024747.5(HPS6):c.541A>G (p.Thr181Ala) rs144257610
NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) rs200584437
NM_024747.5(HPS6):c.698T>G (p.Leu233Arg) rs36078476
NM_024747.5(HPS6):c.706_707delTC
NM_024747.5(HPS6):c.727C>A (p.Pro243Thr) rs767667481
NM_024747.5(HPS6):c.779G>A (p.Gly260Glu)
NM_024747.5(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.5(HPS6):c.913C>T (p.Gln305Ter) rs281865110
NM_024747.6(HPS6):c.-5G>A
NM_024747.6(HPS6):c.1035G>A (p.Arg345=)
NM_024747.6(HPS6):c.1127G>A (p.Arg376His)
NM_024747.6(HPS6):c.1152T>C (p.Phe384=)
NM_024747.6(HPS6):c.1253G>T (p.Gly418Val)
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys)
NM_024747.6(HPS6):c.1363T>C (p.Leu455=)
NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala)
NM_024747.6(HPS6):c.1679G>T (p.Gly560Val)
NM_024747.6(HPS6):c.1692C>A (p.Pro564=)
NM_024747.6(HPS6):c.1692C>T (p.Pro564=)
NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp)
NM_024747.6(HPS6):c.1810C>G (p.Leu604Val)
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp)
NM_024747.6(HPS6):c.1A>G (p.Met1Val)
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)
NM_024747.6(HPS6):c.2045G>A (p.Arg682His)
NM_024747.6(HPS6):c.2112C>T (p.Leu704=)
NM_024747.6(HPS6):c.2166C>T (p.Phe722=)
NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr)
NM_024747.6(HPS6):c.2323C>G (p.Leu775Val)
NM_024747.6(HPS6):c.277G>T (p.Val93Leu)
NM_024747.6(HPS6):c.303C>T (p.Ala101=)
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243
NM_024747.6(HPS6):c.634G>A (p.Val212Met)
NM_024747.6(HPS6):c.732A>G (p.Gly244=)
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser)
NM_024747.6(HPS6):c.831C>G (p.Pro277=)
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041

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