ClinVar Miner

List of variants in gene PRKDC reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.11107+250G>C rs8178238 0.03412
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile) rs8178017 0.03099
NM_006904.7(PRKDC):c.5235+210A>G rs8178114 0.02390
NM_006904.7(PRKDC):c.4071+245C>T rs72647910 0.02330
NM_006904.7(PRKDC):c.2260-187G>A rs3829985 0.02231
NM_006904.7(PRKDC):c.11489+202T>G rs4873672 0.01828
NM_006904.7(PRKDC):c.6346-105A>G rs8178148 0.01827
NM_006904.7(PRKDC):c.4280+21C>T rs45625437 0.01642
NM_006904.7(PRKDC):c.10297+304A>T rs180912464 0.01531
NM_006904.7(PRKDC):c.11176-288A>G rs144272057 0.01516
NM_006904.7(PRKDC):c.11176-22G>T rs8178242 0.01499
NM_006904.7(PRKDC):c.4776+144C>T rs8178105 0.01481
NM_006904.7(PRKDC):c.400-146C>T rs16932317 0.01436
NM_006904.7(PRKDC):c.3270-110A>G rs16931852 0.01408
NM_006904.7(PRKDC):c.6465+49G>T rs7463428 0.01405
NM_006904.7(PRKDC):c.6059-82T>C rs8178140 0.01392
NM_006904.7(PRKDC):c.4414-299G>A rs147304214 0.01335
NM_006904.7(PRKDC):c.9112-68G>A rs146933089 0.01125
NM_006904.7(PRKDC):c.11490-252G>A rs41390145 0.01093
NM_006904.7(PRKDC):c.778-31A>G rs45548835 0.01093
NM_006904.7(PRKDC):c.2935-54C>T rs56110471 0.01091
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228 0.01084
NM_006904.7(PRKDC):c.1777-579A>G rs140789033 0.01082
NM_006904.7(PRKDC):c.2618-303A>G rs149224447 0.00965
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216 0.00825
NM_006904.7(PRKDC):c.11854-123G>A rs8178252 0.00686
NM_006904.7(PRKDC):c.9145C>T (p.Leu3049=) rs56053523 0.00669
NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=) rs8178249 0.00590
NM_006904.7(PRKDC):c.10626C>T (p.Phe3542=) rs8178231 0.00579
NM_006904.7(PRKDC):c.1892+42del rs8178035 0.00536
NM_006904.7(PRKDC):c.9557+200A>G rs8178212 0.00529
NM_006904.7(PRKDC):c.4413+98C>T rs144908648 0.00527
NM_006904.7(PRKDC):c.6465+102A>G rs8178151 0.00523
NM_006904.7(PRKDC):c.6058+28G>A rs8178131 0.00417
NM_006904.7(PRKDC):c.1911A>G (p.Lys637=) rs45438803 0.00412
NM_006904.7(PRKDC):c.1893-12T>G rs56188476 0.00386
NM_006904.7(PRKDC):c.9217C>T (p.Leu3073Phe) rs55644332 0.00292
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_006904.7(PRKDC):c.4594C>T (p.Leu1532Phe) rs56387546 0.00230
NM_006904.7(PRKDC):c.12138C>T (p.Tyr4046=) rs56123237 0.00196
NM_006904.7(PRKDC):c.3315G>T (p.Val1105=) rs56047668 0.00160
NM_006904.7(PRKDC):c.6951C>T (p.Ala2317=) rs114463099 0.00106
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143 0.00104
NM_006904.7(PRKDC):c.9933C>T (p.Asn3311=) rs201592874 0.00080
NM_006904.7(PRKDC):c.6342A>G (p.Glu2114=) rs201300612 0.00071
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile) rs56080897 0.00070
NM_006904.7(PRKDC):c.6348T>C (p.Asp2116=) rs200510022 0.00070
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119 0.00059
NM_006904.7(PRKDC):c.11337C>T (p.Ser3779=) rs55789637 0.00053
NM_006904.7(PRKDC):c.5709G>A (p.Ser1903=) rs200137917 0.00052
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe) rs374403400 0.00051
NM_006904.7(PRKDC):c.11118C>T (p.Asp3706=) rs55660253 0.00032
NM_006904.7(PRKDC):c.8784G>A (p.Lys2928=) rs202100944 0.00029
NM_006904.7(PRKDC):c.1743T>C (p.Leu581=) rs55842323 0.00024
NM_006904.7(PRKDC):c.4963-9T>A rs575172711 0.00013
NM_006904.7(PRKDC):c.6936T>C (p.Tyr2312=) rs55726602 0.00009
NM_006904.7(PRKDC):c.7787G>A (p.Arg2596His) rs201726098 0.00009
NM_006904.7(PRKDC):c.2529C>T (p.Asn843=) rs576550975 0.00008
NM_006904.7(PRKDC):c.5571+5C>T rs780022870 0.00006
NM_006904.7(PRKDC):c.7131-5G>A rs759566902 0.00003
NM_006904.7(PRKDC):c.10298-118_10298-116del
NM_006904.7(PRKDC):c.10298-131G>C
NM_006904.7(PRKDC):c.10298-215_10298-214del
NM_006904.7(PRKDC):c.1114-266del rs869164665
NM_006904.7(PRKDC):c.11514A>G (p.Glu3838=)
NM_006904.7(PRKDC):c.12043-230del rs536284158
NM_006904.7(PRKDC):c.12183-93G>C rs72646391
NM_006904.7(PRKDC):c.12321G>A (p.Leu4107=)
NM_006904.7(PRKDC):c.1777-647G>A
NM_006904.7(PRKDC):c.2139+32_2139+34del rs371404425
NM_006904.7(PRKDC):c.2140-283dup rs375267637
NM_006904.7(PRKDC):c.2259+187_2259+188dup
NM_006904.7(PRKDC):c.243T>C (p.Cys81=)
NM_006904.7(PRKDC):c.3270-12dup rs772109927
NM_006904.7(PRKDC):c.3464+131C>A
NM_006904.7(PRKDC):c.3885T>G (p.Ala1295=) rs968035693
NM_006904.7(PRKDC):c.4455C>T (p.Ser1485=)
NM_006904.7(PRKDC):c.4566A>G (p.Gly1522=) rs1589767137
NM_006904.7(PRKDC):c.5236-270dup rs1279419423
NM_006904.7(PRKDC):c.5316T>C (p.His1772=) rs1589759765
NM_006904.7(PRKDC):c.5979A>G (p.Glu1993=) rs1589750121
NM_006904.7(PRKDC):c.6346-104dup rs201478998
NM_006904.7(PRKDC):c.6441C>G (p.Ala2147=) rs376156239
NM_006904.7(PRKDC):c.7605C>T (p.Thr2535=)
NM_006904.7(PRKDC):c.7962C>T (p.Ser2654=) rs1563758541
NM_006904.7(PRKDC):c.8004C>T (p.Val2668=) rs140123272
NM_006904.7(PRKDC):c.8274G>A (p.Lys2758=) rs148855050
NM_006904.7(PRKDC):c.8577+178del rs8178197
NM_006904.7(PRKDC):c.9337-24dup rs11311765
NM_006904.7(PRKDC):c.9337-4_9337-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT rs11311765
NM_006904.7(PRKDC):c.9337-4del rs11311765
NM_006904.7(PRKDC):c.9337-6_9337-4del rs11311765
NM_006904.7(PRKDC):c.9510T>C (p.Asp3170=) rs757958003
NM_006904.7(PRKDC):c.9804C>G (p.Thr3268=) rs1589707360

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