ClinVar Miner

List of variants studied for Shprintzen-Goldberg syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142 0.01188
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_003036.4(SKI):c.1211+11G>A rs115186522 0.00934
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728 0.00322
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582 0.00032
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396 0.00016
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_003036.4(SKI):c.970-5C>T rs755318392 0.00011
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600 0.00004
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442 0.00002
NM_003036.4(SKI):c.1152C>T (p.Pro384=) rs200160702 0.00001
NM_003036.4(SKI):c.1317C>T (p.Val439=) rs1446526482 0.00001
NM_003036.4(SKI):c.1096A>C (p.Ser366Arg) rs1269741981
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1474+8_1474+9del
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.969+10C>T

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