ClinVar Miner

List of variants reported as likely benign for chromosomal disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.*577T>C rs7538 0.20549
NM_000304.4(PMP22):c.*828G>A rs13027 0.06019
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_000304.4(PMP22):c.*1111G>T rs7415 0.04701
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_000304.4(PMP22):c.*1120T>C rs11654383 0.01749
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_024426.6(WT1):c.*897G>C rs5030324 0.00520
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_024426.6(WT1):c.*542G>A rs142726499 0.00380
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_022039.4(FBXW4):c.134C>T (p.Ala45Val) rs557225276 0.00351
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_022039.4(FBXW4):c.*453C>T rs570558261 0.00263
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_022039.4(FBXW4):c.*233G>T rs535051082 0.00231
NM_000304.4(PMP22):c.-141C>G rs560442424 0.00204
NM_024426.6(WT1):c.*138G>A rs111351882 0.00165
NM_000057.4(BLM):c.*77T>A rs116293756 0.00133
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_022455.5(NSD1):c.*3098dup rs145155077 0.00042
NM_022039.4(FBXW4):c.*204G>A rs185181909 0.00040
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637 0.00035
NM_000127.3(EXT1):c.-642G>A rs534171475 0.00032
NM_022039.4(FBXW4):c.353G>A (p.Gly118Glu) rs532195262 0.00031
NM_022039.4(FBXW4):c.1235+13T>G rs193073481 0.00024
NM_022039.4(FBXW4):c.755T>C (p.Val252Ala) rs143070839 0.00021
NM_019040.5(ELP4):c.*3433G>T rs192709453 0.00019
NM_019040.5(ELP4):c.*3383C>T rs541022955 0.00017
NM_001002295.2(GATA3):c.72G>A (p.Pro24=) rs202168967 0.00011
NM_019040.5(ELP4):c.*4806T>A rs189545730 0.00011
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00009
NM_019040.5(ELP4):c.*5123T>A rs576321279 0.00008
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_000304.4(PMP22):c.*26T>C rs200563670 0.00006
NM_005573.4(LMNB1):c.1190G>A (p.Arg397His) rs746416284 0.00005
NM_022039.4(FBXW4):c.*3G>A rs777074009 0.00005
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900 0.00004
NM_005573.4(LMNB1):c.672A>G (p.Glu224=) rs372510778 0.00003
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_022039.4(FBXW4):c.1254G>A (p.Thr418=) rs142870264 0.00002
NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys) rs771456995 0.00002
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_022039.4(FBXW4):c.1437C>T (p.Ser479=) rs574963392 0.00001
NM_000304.4(PMP22):c.*105CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*525CT[1] rs71699667
NM_001002295.2(GATA3):c.706C>G (p.Pro236Ala) rs148835259
NM_001042424.3(NSD2):c.*339CTC[1] rs375129793
NM_019040.5(ELP4):c.*4251G>A rs3026396
NM_022039.4(FBXW4):c.822-11C>T rs540055383

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