ClinVar Miner

List of variants studied for short rib dysplasia by New York Genome Center

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) rs147744868 0.00046
NM_015662.3(IFT172):c.1523G>A (p.Arg508His) rs144868723 0.00030
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015662.3(IFT172):c.442A>G (p.Ile148Val) rs759861487 0.00006
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr) rs770733075 0.00002
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val) rs760562906 0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) rs201840472 0.00001
NM_001375405.1(CEP120):c.50-2113_206+103del
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val) rs779603114
NM_015662.3(IFT172):c.1720G>C (p.Gly574Arg)
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His) rs746597294
NM_015662.3(IFT172):c.517G>C (p.Asp173His)
NM_015693.4(INTU):c.1305dup (p.Asn436Ter) rs1729889650
NM_022436.3(ABCG5):c.1340C>T (p.Ala447Val)
NM_022436.3(ABCG5):c.576del (p.Ile193fs)

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