ClinVar Miner

List of variants reported as benign for hereditary epidermal appendage anomaly by Natera, Inc.

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_001399.5(EDA):c.706+11_706+12del rs10579679 0.45223
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NR_003051.4(RMRP):n.179C>T rs7021642 0.17814
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_001283009.2(RTEL1):c.582T>C (p.Ile194=) rs73920935 0.08708
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_001283009.2(RTEL1):c.879T>C (p.Gly293=) rs6010616 0.05825
NM_001283009.2(RTEL1):c.371A>G (p.Asn124Ser) rs3848668 0.05764
NM_001283009.2(RTEL1):c.786G>A (p.Ser262=) rs6011020 0.05175
NM_001283009.2(RTEL1):c.1482-6G>A rs76364377 0.04646
NM_001283009.2(RTEL1):c.2823G>C (p.Glu941Asp) rs61736614 0.03406
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02889
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01644
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_001283009.2(RTEL1):c.103-6G>A rs57695352 0.00707
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=) rs12480346 0.00414
NM_001283009.2(RTEL1):c.1953C>T (p.Arg651=) rs79210260 0.00411
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_001283009.2(RTEL1):c.396-37C>T rs41297642 0.00322
NM_001283009.2(RTEL1):c.301+7C>T rs200648296 0.00276
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NC_000009.12:g.35658021G>A rs138660393 0.00185
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr) rs115303435 0.00112
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp) rs146460077 0.00089
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=) rs12625047 0.00086
NM_025216.3(WNT10A):c.591C>T (p.Ala197=) rs367808568 0.00078
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00055
NM_001283009.2(RTEL1):c.959-10C>T rs202035834 0.00044
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_001399.5(EDA):c.60A>C (p.Arg20=) rs183801635 0.00033
NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=) rs188479221 0.00032
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_025216.3(WNT10A):c.234C>T (p.His78=) rs199802454 0.00025
NC_000009.12:g.35658023C>T rs7024732
NC_000009.12:g.35658038G>C rs183974004
NC_000009.12:g.35658073T>C rs12551232
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=) rs3848672
NM_001399.5(EDA):c.1104C>T (p.Asp368=) rs150292516
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn) rs545956598
NM_025216.3(WNT10A):c.4G>A (p.Gly2Ser) rs533605522
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2562-4C>G rs60082311
NR_003051.4(RMRP):n.54dup rs151011853

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