ClinVar Miner

List of variants in gene combination IFT172, KRTCAP3 reported as likely benign for Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71

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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys) rs186020523 0.00013
NM_015662.3(IFT172):c.5161-12A>G rs368863616 0.00012
NM_015662.3(IFT172):c.4816-8T>C rs371396353 0.00007
NM_015662.3(IFT172):c.4755+11del rs775669156 0.00004
NM_015662.3(IFT172):c.4816-6C>T rs367782557 0.00004
NM_015662.3(IFT172):c.4689A>G (p.Ser1563=) rs370933808 0.00003
NM_015662.3(IFT172):c.4815+19C>T rs371490518 0.00003
NM_015662.3(IFT172):c.4915-17C>T rs1431263019 0.00003
NM_015662.3(IFT172):c.4878C>T (p.Pro1626=) rs773180868 0.00001
NM_015662.3(IFT172):c.4893C>A (p.Leu1631=) rs1237678953 0.00001
NM_015662.3(IFT172):c.5010C>T (p.Tyr1670=) rs1459018703 0.00001
NM_015662.3(IFT172):c.5050C>T (p.Leu1684=) rs1350772419 0.00001
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys) rs868748622 0.00001
NM_015662.3(IFT172):c.4660-5C>T
NM_015662.3(IFT172):c.4668G>T (p.Val1556=)
NM_015662.3(IFT172):c.4692C>T (p.Leu1564=)
NM_015662.3(IFT172):c.4743C>G (p.Gly1581=)
NM_015662.3(IFT172):c.4749T>A (p.Ala1583=) rs1160368460
NM_015662.3(IFT172):c.4755+20G>C
NM_015662.3(IFT172):c.4755+9G>A rs375261962
NM_015662.3(IFT172):c.4756-13T>C
NM_015662.3(IFT172):c.4756-15T>A
NM_015662.3(IFT172):c.4756-17A>C
NM_015662.3(IFT172):c.4756-17A>T rs753517897
NM_015662.3(IFT172):c.4756-20G>C
NM_015662.3(IFT172):c.4756-20G>T
NM_015662.3(IFT172):c.4756-5T>C
NM_015662.3(IFT172):c.4756-6C>G
NM_015662.3(IFT172):c.4756-9T>G
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=) rs369400518
NM_015662.3(IFT172):c.4812C>T (p.Thr1604=) rs369400518
NM_015662.3(IFT172):c.4815+10G>A rs759461544
NM_015662.3(IFT172):c.4815+10del
NM_015662.3(IFT172):c.4815+12A>G rs774356097
NM_015662.3(IFT172):c.4815+16G>C rs1296172696
NM_015662.3(IFT172):c.4815+20C>G
NM_015662.3(IFT172):c.4816-5T>C
NM_015662.3(IFT172):c.4816-9_4816-8del rs777369595
NM_015662.3(IFT172):c.4842C>T (p.Gly1614=)
NM_015662.3(IFT172):c.4851C>T (p.His1617=)
NM_015662.3(IFT172):c.4902G>A (p.Lys1634=)
NM_015662.3(IFT172):c.4914+13G>T rs867633277
NM_015662.3(IFT172):c.4914+20A>G
NM_015662.3(IFT172):c.4914+7G>A
NM_015662.3(IFT172):c.4915-16T>A
NM_015662.3(IFT172):c.4915-5T>C
NM_015662.3(IFT172):c.4915-5T>G
NM_015662.3(IFT172):c.4950T>G (p.Leu1650=) rs1238278691
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val) rs529850410
NM_015662.3(IFT172):c.5049C>G (p.Ala1683=) rs1285975087
NM_015662.3(IFT172):c.5068+14C>T
NM_015662.3(IFT172):c.5069-20C>A
NM_015662.3(IFT172):c.5082G>C (p.Leu1694=)
NM_015662.3(IFT172):c.5106G>A (p.Arg1702=) rs2148464737
NM_015662.3(IFT172):c.5142A>G (p.Lys1714=)
NM_015662.3(IFT172):c.5154C>T (p.Ala1718=)
NM_015662.3(IFT172):c.5160+12_5160+14del
NM_015662.3(IFT172):c.5160+13G>A rs1185416215
NM_015662.3(IFT172):c.5160+14A>G
NM_015662.3(IFT172):c.5160+15C>T
NM_015662.3(IFT172):c.5160+16T>G
NM_015662.3(IFT172):c.5161-5C>G
NM_015662.3(IFT172):c.5161-5C>T

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