ClinVar Miner

List of variants reported as uncertain significance for Junctional epidermolysis bullosa, non-Herlitz type

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ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_000494.4(COL17A1):c.-12+10C>T rs57787924 0.00270
NM_000494.4(COL17A1):c.*376C>T rs536982016 0.00157
NM_000494.4(COL17A1):c.*115A>G rs543674750 0.00138
NM_000494.4(COL17A1):c.1212C>T (p.Ala404=) rs146490594 0.00132
NM_000494.4(COL17A1):c.*377G>A rs560335891 0.00101
NM_000494.4(COL17A1):c.839-10G>A rs199952824 0.00086
NM_000494.4(COL17A1):c.3206G>A (p.Arg1069Gln) rs147631156 0.00070
NM_000494.4(COL17A1):c.2971G>A (p.Val991Met) rs138824013 0.00068
NM_000494.4(COL17A1):c.3730G>A (p.Asp1244Asn) rs200313424 0.00066
NM_000228.3(LAMB3):c.777C>T (p.Cys259=) rs146529524 0.00047
NM_000494.4(COL17A1):c.2722C>G (p.Pro908Ala) rs147785714 0.00047
NM_000494.4(COL17A1):c.1013T>C (p.Leu338Ser) rs61731630 0.00046
NM_000494.4(COL17A1):c.979+13C>T rs200676060 0.00037
NM_000494.4(COL17A1):c.316C>T (p.Arg106Cys) rs146267259 0.00036
NM_000494.4(COL17A1):c.3739C>T (p.Arg1247Trp) rs144220426 0.00036
NM_000494.4(COL17A1):c.3205C>T (p.Arg1069Trp) rs201280800 0.00029
NM_000494.4(COL17A1):c.3452C>T (p.Pro1151Leu) rs150968209 0.00029
NM_000494.4(COL17A1):c.4081G>A (p.Gly1361Arg) rs143021968 0.00023
NM_000494.4(COL17A1):c.1761T>C (p.Pro587=) rs200370596 0.00021
NM_198129.4(LAMA3):c.9781A>G (p.Ser3261Gly) rs150364364 0.00019
NM_000494.4(COL17A1):c.1654G>T (p.Val552Leu) rs192048445 0.00013
NM_000494.4(COL17A1):c.2788+13C>T rs368380054 0.00012
NM_000494.4(COL17A1):c.1081C>G (p.Leu361Val) rs151052547 0.00011
NM_000494.4(COL17A1):c.2836G>A (p.Gly946Arg) rs149626572 0.00011
NM_000494.4(COL17A1):c.415+2T>G rs147734242 0.00011
NM_000228.3(LAMB3):c.1565G>A (p.Arg522Gln) rs144249951 0.00010
NM_000494.4(COL17A1):c.1318G>A (p.Gly440Ser) rs139463731 0.00010
NM_000494.4(COL17A1):c.2362+7C>T rs199555448 0.00010
NM_000494.4(COL17A1):c.3772G>A (p.Asp1258Asn) rs749875359 0.00010
NM_000494.4(COL17A1):c.97+11A>T rs199560359 0.00010
NM_000494.4(COL17A1):c.*57G>A rs886046681 0.00009
NM_000494.4(COL17A1):c.2086G>A (p.Val696Ile) rs199841218 0.00009
NM_000494.4(COL17A1):c.3213G>A (p.Ser1071=) rs147011538 0.00009
NM_000494.4(COL17A1):c.*823T>G rs1466691887 0.00008
NM_000494.4(COL17A1):c.186C>T (p.Ser62=) rs149685665 0.00008
NM_000494.4(COL17A1):c.771C>T (p.Phe257=) rs747029963 0.00008
NM_000494.4(COL17A1):c.3277+3G>C rs757250244 0.00007
NM_000494.4(COL17A1):c.3788T>C (p.Ile1263Thr) rs372244733 0.00007
NM_000494.4(COL17A1):c.2701+12G>C rs373581383 0.00006
NM_000494.4(COL17A1):c.3489G>T (p.Glu1163Asp) rs746116200 0.00006
NM_000494.4(COL17A1):c.3955G>A (p.Gly1319Ser) rs777099411 0.00006
NM_000494.4(COL17A1):c.759G>A (p.Ala253=) rs199950802 0.00006
NM_000494.4(COL17A1):c.1587C>T (p.Pro529=) rs376179264 0.00005
NM_000494.4(COL17A1):c.1493G>A (p.Arg498His) rs371044491 0.00004
NM_000494.4(COL17A1):c.2451C>T (p.Leu817=) rs138844452 0.00004
NM_000494.4(COL17A1):c.*123T>C rs1029949829 0.00003
NM_000494.4(COL17A1):c.2641C>G (p.Pro881Ala) rs373441666 0.00003
NM_000494.4(COL17A1):c.369G>A (p.Arg123=) rs769653136 0.00003
NM_000494.4(COL17A1):c.979G>A (p.Ala327Thr) rs886046689 0.00003
NM_000494.4(COL17A1):c.1467G>A (p.Ala489=) rs749900346 0.00002
NM_000494.4(COL17A1):c.1557A>C (p.Ile519=) rs780065996 0.00002
NM_000494.4(COL17A1):c.2444C>T (p.Ser815Leu) rs774868385 0.00002
NM_000494.4(COL17A1):c.2636G>A (p.Arg879Gln) rs140872949 0.00002
NM_000494.4(COL17A1):c.3190G>A (p.Val1064Ile) rs567623265 0.00002
NM_000494.4(COL17A1):c.382T>A (p.Ser128Thr) rs776673961 0.00002
NM_000494.4(COL17A1):c.4438+13T>C rs886046682 0.00002
NM_000494.4(COL17A1):c.557C>G (p.Pro186Arg) rs371917934 0.00002
NM_000494.4(COL17A1):c.679G>A (p.Ala227Thr) rs753380251 0.00002
NM_000494.4(COL17A1):c.947C>T (p.Ala316Val) rs754262602 0.00002
NM_000228.3(LAMB3):c.405C>T (p.Arg135=) rs1007125449 0.00001
NM_000494.4(COL17A1):c.*427G>A rs922346003 0.00001
NM_000494.4(COL17A1):c.1355C>T (p.Ala452Val) rs770348291 0.00001
NM_000494.4(COL17A1):c.1450G>A (p.Gly484Ser) rs572880557 0.00001
NM_000494.4(COL17A1):c.1830C>T (p.Ser610=) rs886046688 0.00001
NM_000494.4(COL17A1):c.2194G>A (p.Ala732Thr) rs765952707 0.00001
NM_000494.4(COL17A1):c.2371G>A (p.Gly791Ser) rs375127939 0.00001
NM_000494.4(COL17A1):c.2701G>A (p.Glu901Lys) rs777005173 0.00001
NM_000494.4(COL17A1):c.2771G>A (p.Gly924Asp) rs752420310 0.00001
NM_000494.4(COL17A1):c.284G>T (p.Gly95Val) rs538962685 0.00001
NM_000494.4(COL17A1):c.3209-8C>T rs573018433 0.00001
NM_000494.4(COL17A1):c.3363C>T (p.Ser1121=) rs777012194 0.00001
NM_000494.4(COL17A1):c.3625G>A (p.Gly1209Ser) rs768835063 0.00001
NM_000494.4(COL17A1):c.3865A>G (p.Ser1289Gly) rs749528648 0.00001
NM_000494.4(COL17A1):c.4183T>C (p.Tyr1395His) rs764180733 0.00001
NM_000494.4(COL17A1):c.4186A>G (p.Thr1396Ala) rs762808930 0.00001
NM_000494.4(COL17A1):c.584T>C (p.Ile195Thr) rs886046690 0.00001
NM_000228.3(LAMB3):c.1410G>A (p.Trp470Ter)
NM_000228.3(LAMB3):c.1482C>G (p.Asn494Lys)
NM_000228.3(LAMB3):c.1654C>T (p.Arg552Cys)
NM_000228.3(LAMB3):c.1727C>T (p.Pro576Leu) rs202063530
NM_000228.3(LAMB3):c.298+5G>C
NM_000228.3(LAMB3):c.3008G>C (p.Gly1003Ala) rs768371778
NM_000228.3(LAMB3):c.761G>A (p.Gly254Asp)
NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr) rs1553277738
NM_000494.4(COL17A1):c.*361T>C rs1844688299
NM_000494.4(COL17A1):c.*394C>A rs909584105
NM_000494.4(COL17A1):c.*558G>C rs572019863
NM_000494.4(COL17A1):c.*744G>T rs886046680
NM_000494.4(COL17A1):c.1267+6T>C rs2086548953
NM_000494.4(COL17A1):c.1339G>T (p.Gly447Cys) rs200223042
NM_000494.4(COL17A1):c.1687+15G>A rs77525709
NM_000494.4(COL17A1):c.1687+1G>T rs1564679226
NM_000494.4(COL17A1):c.1751G>A (p.Arg584Gln) rs753955095
NM_000494.4(COL17A1):c.2145A>G (p.Lys715=) rs2086453392
NM_000494.4(COL17A1):c.2534G>C (p.Gly845Ala) rs760546267
NM_000494.4(COL17A1):c.2680G>T (p.Gly894Ter) rs765873070
NM_000494.4(COL17A1):c.2801T>C (p.Leu934Pro) rs2086337952
NM_000494.4(COL17A1):c.2805A>G (p.Pro935=) rs886046687
NM_000494.4(COL17A1):c.3247T>C (p.Ser1083Pro) rs549342922
NM_000494.4(COL17A1):c.3277+14G>C rs139559830
NM_000494.4(COL17A1):c.3400A>G (p.Ile1134Val) rs1272442439
NM_000494.4(COL17A1):c.3418+8T>A rs886046686
NM_000494.4(COL17A1):c.3456G>A (p.Gly1152=) rs547446962
NM_000494.4(COL17A1):c.3478T>A (p.Ser1160Thr) rs886046685
NM_000494.4(COL17A1):c.3508+13A>G rs2086270467
NM_000494.4(COL17A1):c.365C>T (p.Pro122Leu) rs1356975720
NM_000494.4(COL17A1):c.367C>T (p.Arg123Trp) rs1307900387
NM_000494.4(COL17A1):c.3778C>T (p.Arg1260Cys) rs770168630
NM_000494.4(COL17A1):c.3825C>A (p.Pro1275=) rs886046684
NM_000494.4(COL17A1):c.3992C>G (p.Ala1331Gly) rs2086246045
NM_000494.4(COL17A1):c.4088T>C (p.Leu1363Ser) rs776889999
NM_000494.4(COL17A1):c.4100T>C (p.Phe1367Ser) rs886046683
NM_000494.4(COL17A1):c.681G>C (p.Ala227=) rs756738076
NM_000494.4(COL17A1):c.758C>T (p.Ala253Val) rs146016251
NM_000494.4(COL17A1):c.7G>A (p.Val3Ile) rs2086757025
NM_000494.4(COL17A1):c.898A>G (p.Thr300Ala) rs2086589410
NM_005562.3(LAMC2):c.2278G>A (p.Glu760Lys) rs2102242954
NM_005562.3(LAMC2):c.815A>G (p.Asp272Gly) rs2102224102
NM_198129.4(LAMA3):c.4246G>A (p.Val1416Met) rs77331026
NM_198129.4(LAMA3):c.7228T>A (p.Leu2410Met) rs772651987
NM_198129.4(LAMA3):c.8381C>T (p.Ser2794Leu) rs2145377026
NM_198129.4(LAMA3):c.839C>T (p.Pro280Leu) rs2143574692

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