ClinVar Miner

Variants in gene WDR62 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 44
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HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.2147-34G>A rs2301736 0.41985
NM_001083961.2(WDR62):c.700-18C>T rs10423651 0.28763
NM_001083961.2(WDR62):c.1643-39G>A rs2301735 0.07203
NM_001083961.2(WDR62):c.1768+28G>A rs77938609 0.04228
NM_001083961.2(WDR62):c.561+44C>G rs115806759 0.03880
NM_001083961.2(WDR62):c.4153+37C>G rs58041656 0.03299
NM_001083961.2(WDR62):c.3514+44G>A rs45468494 0.03042
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.00960
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_001083961.2(WDR62):c.1959-20A>G rs150830386 0.00582
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_001083961.2(WDR62):c.2334-6C>A rs138928852 0.00461
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536 0.00310
NM_001083961.2(WDR62):c.269+19C>T rs140267028 0.00221
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=) rs149289227 0.00183
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=) rs148415080 0.00176
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=) rs114968951 0.00170
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551 0.00148
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=) rs148667984 0.00138
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) rs139749569 0.00137
NM_001083961.2(WDR62):c.2529C>T (p.Asp843=) rs144697999 0.00073
NM_001083961.2(WDR62):c.477G>A (p.Ala159=) rs146485488 0.00051
NM_001083961.2(WDR62):c.744C>T (p.Gly248=) rs146898747 0.00045
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186 0.00041
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) rs757294519 0.00035
NM_001083961.2(WDR62):c.546C>T (p.Asn182=) rs199931318 0.00026
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp) rs746156911 0.00021
NM_001083961.2(WDR62):c.1233+7C>G rs537771936 0.00017
NM_001083961.2(WDR62):c.1434C>G (p.Phe478Leu) rs542178534 0.00001
NM_001083961.2(WDR62):c.699+16T>C rs201300686 0.00001
NM_001083961.2(WDR62):c.1233+11C>A rs116050630
NM_001083961.2(WDR62):c.1233+15del rs373693641
NM_001083961.2(WDR62):c.1233+15dup rs373693641
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.1768+17C>T
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=) rs115453534
NM_001083961.2(WDR62):c.2334-29C>T rs2301737
NM_001083961.2(WDR62):c.2739+17C>A rs144527765
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del) rs794727435

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