ClinVar Miner

List of variants reported as benign for alopecia

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_177986.5(DSG4):c.1930A>C (p.Ile644Leu) rs4799570 0.93107
NM_007373.4(SHOC2):c.1161+42T>C rs1980869 0.82744
NM_177986.5(DSG4):c.495C>T (p.Ser165=) rs9956865 0.78725
NM_177986.5(DSG4):c.3066C>A (p.Pro1022=) rs7234288 0.72694
NM_177986.5(DSG4):c.258G>A (p.Arg86=) rs16959856 0.70447
NM_005144.5(HR):c.-615T>G rs6557841 0.65210
NM_005144.5(HR):c.1305T>C (p.Phe435=) rs12675745 0.63572
NM_002709.3(PPP1CB):c.201A>G (p.Gln67=) rs1128416 0.57257
NM_177986.5(DSG4):c.2748A>G (p.Pro916=) rs12960081 0.40506
NM_005144.5(HR):c.*240C>A rs6994872 0.37740
NM_005144.5(HR):c.3379-29G>T rs6557829 0.35485
NM_005144.5(HR):c.1010G>A (p.Gly337Asp) rs12675375 0.28084
NM_005144.5(HR):c.1577T>C (p.Leu526Pro) rs56140348 0.19328
NM_177986.5(DSG4):c.*31C>T rs7234333 0.15278
NM_177986.5(DSG4):c.30C>T (p.Cys10=) rs36101975 0.13937
NM_005144.5(HR):c.2370T>C (p.Asp790=) rs57903149 0.11618
NM_005144.5(HR):c.2367T>C (p.Ser789=) rs58080661 0.11568
NM_005144.5(HR):c.3064A>G (p.Thr1022Ala) rs7014851 0.08773
NM_005144.5(HR):c.1583A>G (p.Gln528Arg) rs74596676 0.07210
NM_007373.4(SHOC2):c.*1503A>G rs1327552 0.06997
NM_005144.5(HR):c.1190G>A (p.Cys397Tyr) rs73549523 0.06592
NM_007373.4(SHOC2):c.*1487del rs143768227 0.06116
NM_005144.5(HR):c.2733C>A (p.Ser911Arg) rs11990451 0.05556
NM_005144.5(HR):c.956C>T (p.Pro319Leu) rs77758962 0.05449
NM_005144.5(HR):c.188C>G (p.Pro63Arg) rs73549525 0.03073
NM_005144.5(HR):c.27G>A (p.Lys9=) rs77620102 0.03021
NM_005144.5(HR):c.*820G>C rs142767236 0.01950
NM_177986.5(DSG4):c.1604T>C (p.Ile535Thr) rs7229252 0.01924
NM_005144.5(HR):c.2467G>A (p.Gly823Ser) rs76547188 0.01641
NM_005144.5(HR):c.-333T>C rs147674174 0.01614
NM_005144.5(HR):c.1507G>A (p.Ala503Thr) rs115643651 0.01594
NM_005144.5(HR):c.2570G>A (p.Arg857His) rs114871775 0.01509
NM_005144.5(HR):c.1055C>T (p.Ala352Val) rs115396678 0.01418
NM_005144.5(HR):c.*81C>T rs114329519 0.01316
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_177986.5(DSG4):c.2391A>C (p.Arg797=) rs112653254 0.01253
NM_005144.5(HR):c.2211C>T (p.Pro737=) rs77689228 0.01241
NM_005144.5(HR):c.*218T>C rs74869265 0.01220
NM_005144.5(HR):c.1907A>G (p.Glu636Gly) rs75362423 0.01168
NM_005144.5(HR):c.1461C>T (p.Cys487=) rs78703240 0.01153
NM_016233.2(PADI3):c.856A>G (p.Thr286Ala) rs139426141 0.01139
NM_005144.5(HR):c.*599T>G rs76109349 0.01096
NM_005144.5(HR):c.1359G>A (p.Ser453=) rs78489044 0.00909
NM_007373.4(SHOC2):c.*773G>A rs114628508 0.00719
NM_005144.5(HR):c.3216G>A (p.Val1072=) rs146855847 0.00634
NM_005144.5(HR):c.3253C>G (p.Pro1085Ala) rs143782421 0.00633
NM_005144.5(HR):c.*756G>T rs116456103 0.00573
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_005144.5(HR):c.2617T>C (p.Leu873=) rs116376389 0.00542
NM_005144.5(HR):c.3192C>T (p.Arg1064=) rs114507110 0.00527
NM_005144.5(HR):c.3213+10C>T rs116703265 0.00522
NM_005144.5(HR):c.1727C>T (p.Ala576Val) rs76294724 0.00512
NM_007373.4(SHOC2):c.*697C>T rs189140753 0.00453
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_005144.5(HR):c.205C>T (p.Pro69Ser) rs78621054 0.00328
NM_007373.4(SHOC2):c.-159T>C rs72819758 0.00305
NM_005144.5(HR):c.*931T>C rs76436208 0.00289
NM_007373.4(SHOC2):c.*164T>A rs191293913 0.00283
NM_005144.5(HR):c.1956C>T (p.Ala652=) rs78939934 0.00264
NM_005144.5(HR):c.2526A>C (p.Pro842=) rs371431900 0.00199
NM_005144.5(HR):c.1380C>T (p.Asp460=) rs147308644 0.00196
NM_007373.4(SHOC2):c.*1775T>C rs535776105 0.00157
NM_005144.5(HR):c.2104G>T (p.Gly702Trp) rs138941448 0.00134
NM_007373.4(SHOC2):c.*1483G>A rs180979375 0.00128
NM_007373.4(SHOC2):c.*3T>C rs143187497 0.00097
NM_007373.4(SHOC2):c.-179T>A rs143180451 0.00080
NM_005144.5(HR):c.1572G>A (p.Gly524=) rs149811800 0.00050
NM_007373.4(SHOC2):c.704-16G>T rs185614302 0.00033
NM_007373.4(SHOC2):c.*1323C>T rs371721188 0.00021
NM_007373.4(SHOC2):c.841+12G>A rs201258692 0.00019
NM_007373.4(SHOC2):c.*16C>A rs753327392 0.00013
NM_007373.4(SHOC2):c.*1106A>C rs118172559 0.00010
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00008
NM_177986.5(DSG4):c.2796T>G (p.Asn932Lys) rs373510855 0.00007
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_007373.4(SHOC2):c.*20C>T rs371005619 0.00005
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_007373.4(SHOC2):c.*914G>A rs189223963 0.00002
NM_005144.5(HR):c.*1251dup rs11446222
NM_005144.5(HR):c.1858C>G (p.Arg620Gly) rs200843097
NM_005144.5(HR):c.3339C>A (p.Pro1113=) rs112173147
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_007373.4(SHOC2):c.973-5del rs730881016

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