List of variants in gene PKD1 reported by MGZ Medical Genetics Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu)	rs138096771	0.00004
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	rs1555455457	0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)	rs752793757	0.00001
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)	rs1555447011
NM_001009944.3(PKD1):c.2085del (p.Ala696fs)	rs1567212531
NM_001009944.3(PKD1):c.3902C>G (p.Pro1301Arg)	rs2544826889
NM_001009944.3(PKD1):c.407T>A (p.Leu136Gln)	rs2544883206
NM_001009944.3(PKD1):c.5639A>T (p.Asn1880Ile)	rs547194096
NM_001009944.3(PKD1):c.5953G>A (p.Ala1985Thr)	rs771005067
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)	rs1555454411
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)	rs1567191601
NM_001009944.3(PKD1):c.7104_7118del (p.Leu2368_Cys2373delinsPhe)	rs2544784949
NM_001009944.3(PKD1):c.8017-2A>G	rs1567180640
NM_001009944.3(PKD1):c.8161+1G>T	rs2544757259
NM_001009944.3(PKD1):c.8427_8446dup (p.Leu2816fs)	rs2544744482
NM_001009944.3(PKD1):c.9445A>C (p.Ser3149Arg)	rs2544718506

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