ClinVar Miner

List of variants in gene PCDH15 reported as pathogenic for Usher syndrome type 1

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)
NM_001384140.1(PCDH15):c.4368-1895_4368-1893del rs113363047
NM_033056.4(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_033056.4(PCDH15):c.158-1G>A rs876657418
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_033056.4(PCDH15):c.1863T>G (p.Tyr621Ter) rs1590691343
NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_033056.4(PCDH15):c.1940C>G (p.Ser647Ter) rs137853004
NM_033056.4(PCDH15):c.2148_2155del (p.Phe717fs)
NM_033056.4(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_033056.4(PCDH15):c.394dup (p.Glu132fs) rs397515566
NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
PCDH15, 3-BP DEL, 5601AAC
PCDH15, IVS27, A-G, -2

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