ClinVar Miner

List of variants in gene HR studied for alopecia

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
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HGVS dbSNP
HR, 1-BP DEL, 1256C
HR, 1-BP DEL, 2147C
HR, 1-BP DEL, 3434C
HR, 2-BP DEL, 2847AG
HR, 21-BP DEL, NT1261
HR, IVS12DS, G-A, +1
NM_005144.4(HR):c.*1150C>T rs185853861
NM_005144.4(HR):c.*1251dup rs11446222
NM_005144.4(HR):c.*1262G>C rs537998785
NM_005144.4(HR):c.*180G>A rs564901808
NM_005144.4(HR):c.*185C>G rs886062804
NM_005144.4(HR):c.*218T>C rs74869265
NM_005144.4(HR):c.*240C>A rs6994872
NM_005144.4(HR):c.*294C>T rs550603067
NM_005144.4(HR):c.*303G>A rs181310087
NM_005144.4(HR):c.*30G>T rs369058841
NM_005144.4(HR):c.*597C>T rs886062803
NM_005144.4(HR):c.*734G>A rs536800865
NM_005144.4(HR):c.*751G>C rs777189827
NM_005144.4(HR):c.*81C>T rs114329519
NM_005144.4(HR):c.*820G>A rs142767236
NM_005144.4(HR):c.*820G>C rs142767236
NM_005144.4(HR):c.*82G>T rs112057122
NM_005144.4(HR):c.*894G>A rs564636595
NM_005144.4(HR):c.*931T>C rs76436208
NM_005144.4(HR):c.-136C>T rs766260543
NM_005144.4(HR):c.-218A>G rs267606869
NM_005144.4(HR):c.-249C>G rs267606868
NM_005144.4(HR):c.-315C>T rs267606867
NM_005144.4(HR):c.-320T>C rs387906382
NM_005144.4(HR):c.-326G>A rs886062810
NM_005144.4(HR):c.-333T>C rs147674174
NM_005144.4(HR):c.-411C>T rs541887689
NM_005144.4(HR):c.-439A>G rs886062811
NM_005144.4(HR):c.-443G>C rs886062812
NM_005144.4(HR):c.-579_-568CCGCCGCGCTCT[3] rs568964531
NM_005144.4(HR):c.-615T>G rs6557841
NM_005144.4(HR):c.-621T>C rs886062813
NM_005144.4(HR):c.1010G>A (p.Gly337Asp) rs12675375
NM_005144.4(HR):c.1055C>T (p.Ala352Val) rs115396678
NM_005144.4(HR):c.1190G>A (p.Cys397Tyr) rs73549523
NM_005144.4(HR):c.120G>A (p.Pro40=) rs757776752
NM_005144.4(HR):c.1276C>T (p.Pro426Ser) rs151036296
NM_005144.4(HR):c.1305T>C (p.Phe435=) rs12675745
NM_005144.4(HR):c.1346T>G (p.Val449Gly) rs144744042
NM_005144.4(HR):c.1360A>G (p.Ile454Val) rs886062809
NM_005144.4(HR):c.1458A>G (p.Pro486=) rs144643140
NM_005144.4(HR):c.1461C>T (p.Cys487=) rs78703240
NM_005144.4(HR):c.1484C>G (p.Ala495Gly) rs766524987
NM_005144.4(HR):c.1507G>A (p.Ala503Thr) rs115643651
NM_005144.4(HR):c.1517A>G (p.Glu506Gly) rs112016555
NM_005144.4(HR):c.1557-13G>A rs113141789
NM_005144.4(HR):c.1572G>A (p.Gly524=) rs149811800
NM_005144.4(HR):c.1577T>C (p.Leu526Pro) rs56140348
NM_005144.4(HR):c.1583A>G (p.Gln528Arg) rs74596676
NM_005144.4(HR):c.1632C>T (p.Ser544=) rs148562279
NM_005144.4(HR):c.1837C>T (p.Arg613Ter) rs121434449
NM_005144.4(HR):c.184C>A (p.Pro62Thr) rs137929972
NM_005144.4(HR):c.1858C>G (p.Arg620Gly) rs200843097
NM_005144.4(HR):c.1859G>A (p.Arg620Gln) rs117197822
NM_005144.4(HR):c.188C>G (p.Pro63Arg) rs73549525
NM_005144.4(HR):c.1907A>G (p.Glu636Gly) rs75362423
NM_005144.4(HR):c.2001_2004delCCAG
NM_005144.4(HR):c.2006-4C>T rs886062808
NM_005144.4(HR):c.2104G>T (p.Gly702Trp) rs138941448
NM_005144.4(HR):c.2166C>T (p.Cys722=) rs200854129
NM_005144.4(HR):c.2203+6C>T rs761298317
NM_005144.4(HR):c.2211C>T (p.Pro737=) rs77689228
NM_005144.4(HR):c.2212G>A (p.Asp738Asn) rs886062807
NM_005144.4(HR):c.2217C>T (p.Ser739=) rs574361484
NM_005144.4(HR):c.2298G>A (p.Ala766=) rs145225497
NM_005144.4(HR):c.2367+14C>T rs112532092
NM_005144.4(HR):c.2367T>C (p.Ser789=) rs58080661
NM_005144.4(HR):c.2370T>C (p.Asp790=) rs57903149
NM_005144.4(HR):c.2467G>A (p.Gly823Ser) rs76547188
NM_005144.4(HR):c.2507G>T (p.Arg836Leu) rs201739936
NM_005144.4(HR):c.2526A>C (p.Pro842=) rs371431900
NM_005144.4(HR):c.2566C>G (p.Arg856Gly) rs377059643
NM_005144.4(HR):c.2566C>T (p.Arg856Trp) rs377059643
NM_005144.4(HR):c.2570G>A (p.Arg857His) rs114871775
NM_005144.4(HR):c.2617T>C (p.Leu873=) rs116376389
NM_005144.4(HR):c.2733C>A (p.Ser911Arg) rs11990451
NM_005144.4(HR):c.2776+1G>A rs773764015
NM_005144.4(HR):c.2777-10C>T rs767116700
NM_005144.4(HR):c.27G>A (p.Lys9=) rs77620102
NM_005144.4(HR):c.2862T>A (p.Ala954=) rs148407688
NM_005144.4(HR):c.3034G>A (p.Asp1012Asn) rs121434451
NM_005144.4(HR):c.3049C>T (p.Leu1017=) rs554642882
NM_005144.4(HR):c.3064A>G (p.Thr1022Ala) rs7014851
NM_005144.4(HR):c.3098-13C>G rs886062806
NM_005144.4(HR):c.3192C>T (p.Arg1064=) rs114507110
NM_005144.4(HR):c.3213+10C>T rs116703265
NM_005144.4(HR):c.3250G>A (p.Ala1084Thr) rs201956860
NM_005144.4(HR):c.3296G>T (p.Arg1099Leu) rs771604649
NM_005144.4(HR):c.3339C>A (p.Pro1113=) rs112173147
NM_005144.4(HR):c.3340G>A (p.Gly1114Arg) rs886062805
NM_005144.4(HR):c.3407T>A (p.Val1136Asp) rs121434448
NM_005144.4(HR):c.3470C>G (p.Pro1157Arg) rs201030061
NM_005144.4(HR):c.3526C>T (p.Gln1176Ter) rs121434450
NM_005144.4(HR):c.3537G>A (p.Lys1179=) rs779312247
NM_005144.4(HR):c.3544G>A (p.Val1182Met) rs753736200
NM_005144.4(HR):c.37A>G (p.Thr13Ala) rs143316642
NM_005144.4(HR):c.415C>T (p.Arg139Trp) rs148782064
NM_005144.4(HR):c.85G>A (p.Gly29Ser) rs774239265
NM_005144.4(HR):c.956C>T (p.Pro319Leu) rs77758962
NM_005144.4(HR):c.970C>T (p.Arg324Trp) rs143170974

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